############################################################## chr16:88877296-88879102 APRT 15 chr16 87889832 87890135 00000 1 chr16 88554365 88555102 10110 3 chr16 88555194 88555237 10110 3 chr16 88555676 88555804 10110 1 chr16 88684949 88685000 11111 2 chr16 88685200 88685265 11111 2 chr16 88829996 88830284 11000 3 chr16 89386846 89386955 10000 1 chr16 89396609 89396710 11000 1 chr16 89412072 89412460 10000 2 chr16 89460400 89460700 10000 1 chr16 89479400 89479471 10000 1 chr16 89483747 89484000 10000 1 chr16 89484861 89485119 10000 2 chr16 89496966 89497181 10000 2 chr16 88878307 88878308 CM940078 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency cgggctgccgctggctcttcgcacgcggcc[A/G]TGGCCGACTCCGAGCTGCAGCTGGTTGAGC 7912608 chr16 88878305 88878306 CM102688 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency ggctgccgctggctcttcgcacgcggccAT[G/A]GCCGACTCCGAGCTGCAGCTGGTTGAGCAG 20150536 chr16 88878061 88878062 CM122296 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency cgtcaccaggcctgtccttgggtccagGGA[C/A]ATCTCGCCCGTCCTGAAGGACCCCGCCTCC 22212387 chr16 88878047 88878048 CM114657 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency tccttgggtccagGGACATCTCGCCCGTCC[T/C]GAAGGACCCCGCCTCCTTCCGCGCCGCCAT 21635362 chr16 88878026 88878027 CM102692 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency CGCCCGTCCTGAAGGACCCCGCCTCCTTCC[G/C]CGCCGCCATCGGCCTCCTGGCGCGACACCT 20150536 chr16 88877962 88877963 CI910624 - 6 DM NULL APRT Adenine phosphoribosyltransferase deficiency GGCGACCCACGGGGGCCGCATCGACTACAT[-/T]CGCAGGCGAGTGCCCAGTGGCCGCATCTAG 1781410 ############################################################## chr16:88876200-88876774 APRT 15 chr16 87875400 87875524 00000 2 chr16 87875702 87876044 00000 1 chr16 87876360 87876873 00000 1 chr16 87889832 87890135 00000 1 chr16 88684949 88685000 11111 2 chr16 88685200 88685265 11111 2 chr16 88829996 88830284 11000 3 chr16 89386846 89386955 10000 1 chr16 89396609 89396710 11000 1 chr16 89412072 89412460 10000 2 chr16 89460400 89460700 10000 1 chr16 89479400 89479471 10000 1 chr16 89483747 89484000 10000 1 chr16 89484861 89485119 10000 2 chr16 89496966 89497181 10000 2 chr16 88876549 88876550 CM940079 - 1 DM rs104894508 APRT Adenine phosphoribosyltransferase deficiency ccacacaccacttcccactccagGCTGAGC[T/C]GGAGATTCAGAAAGACGCCCTGGAGCCAGG 7915931 chr16 88876544 88876545 CM910620 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency caccacttcccactccagGCTGAGCTGGAG[A/T]TTCAGAAAGACGCCCTGGAGCCAGGACAGA 1781410 chr16 88876532 88876533 CM095387 - 1 DM rs201944035 APRT Adenine phosphoribosyltransferase deficiency ctccagGCTGAGCTGGAGATTCAGAAAGAC[G/A]CCCTGGAGCCAGGACAGAGGGTGGTCGTCG 19435978 chr16 88876507 88876508 CM102689 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency AAGACGCCCTGGAGCCAGGACAGAGGGTGG[T/G]CGTCGTGGATGATCTGCTGGCCACTGGTGg 20150536 chr16 88876480 88876481 CM044207 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency TGGTCGTCGTGGATGATCTGCTGGCCACTG[G/A]TGgtaagggtctccccgcagccaactgctg 15571218 chr16 88876475 88876476 CI870027 - 6 DM NULL APRT Adenine phosphoribosyltransferase deficiency GTCGTGGATGATCTGCTGGCCACTGGTGGT[-/T]AAGGGTCTCCCCGCAGCCAACTGCTGTGGC 3680503 chr16 88876242 88876243 CM880009 - 1 DM rs28999113 APRT Adenine phosphoribosyltransferase deficiency gggacctcaccctcccatccccagGAACCA[T/C]GAACGCTGCCTGTGAGCTGCTGGGCCGCCT 3343350 chr16 88876221 88876222 CM102693 - 1 DM NULL APRT Adenine phosphoribosyltransferase deficiency cagGAACCATGAACGCTGCCTGTGAGCTGC[T/C]GGGCCGCCTGCAGGCTGAGGTCCTGGAGTG 20150536 chr16 88876201 88876202 CM012727 - 1 DM rs281860266 APRT Adenine phosphoribosyltransferase deficiency TGTGAGCTGCTGGGCCGCCTGCAGGCTGAG[G/T]TCCTGGAGTGCGTGAGCCTGGTGGAGCTGA 11243733 ############################################################## chr16:88716121-88718300 CYBA 14 chr16 87875400 87875524 00000 2 chr16 87875702 87876044 00000 1 chr16 87876360 87876873 00000 1 chr16 87889832 87890135 00000 1 chr16 88684949 88685000 11111 2 chr16 88685200 88685265 11111 2 chr16 88829996 88830284 11000 3 chr16 89386846 89386955 10000 1 chr16 89396609 89396710 11000 1 chr16 89460400 89460700 10000 1 chr16 89479400 89479471 10000 1 chr16 89483747 89484000 10000 1 chr16 89484861 89485119 10000 2 chr16 89496966 89497181 10000 2 chr16 88718096 88718097 CR073543 - 3 DFP rs72811418 CYBA Essential hypertension: association with CACCACCCCCACGCCAGCCCCTGCCTCCCG[A/T]ACCCAGGCCGGACGTGACGGGGCCGTCCCT 17620958 chr16 88717420 88717421 CM101767 - 1 DM NULL CYBA Chronic granulomatous disease agcagtgtcccagccgggttcgtgtcgccA[T/A]GGGGCAGATCGAGTGGGCCATGTGGGCCAA 20167518 chr16 88717415 88717416 CM001111 - 1 DM rs104894511 CYBA Chronic granulomatous disease tgtcccagccgggttcgtgtcgccATGGGG[C/T]AGATCGAGTGGGCCATGTGGGCCAACGAAC 10759707 chr16 88717396 88717397 CM004694 - 1 DM NULL CYBA Chronic granulomatous disease tcgccATGGGGCAGATCGAGTGGGCCATGT[G/A]GGCCAACGAACAGGCGCTGGCGTCCGGCCT 10910929 chr16 88717395 88717396 CM001654 - 1 DM NULL CYBA Chronic granulomatous disease cgccATGGGGCAGATCGAGTGGGCCATGTG[G/A]GCCAACGAACAGGCGCTGGCGTCCGGCCTG 10914676 chr16 88717362 88717363 CS137273 - 2 DM NULL CYBA Chronic granulomatous disease CAACGAACAGGCGCTGGCGTCCGGCCTGAg[T/G]gagtgcacgtcagggacggtggaggctgca 23910690 chr16 88717357 88717360 CD001879 - 5 DM NULL CYBA Chronic granulomatous disease ACGAACAGGCGCTGGCGTCCGGCCTGAGTG[AGTG/-]CACGTCAGGGACGGTGGAGGCTGCAGCCTG 10914676 ############################################################## chr8:128747134-128751373 MYC 12 chr8 128234886 128235147 11101 4 chr8 128413168 128413267 10010 1 chr8 128930891 128931084 11000 1 chr8 129179691 129179954 10000 3 chr8 129180621 129180903 11000 2 chr8 129188924 129189489 11111 4 chr8 129197392 129197509 10010 1 chr8 129209290 129209713 11111 4 chr8 129209944 129210105 10100 1 chr8 129567426 129567884 11111 4 chr8 129568733 129569202 11111 4 chr8 129665665 129665723 11100 1 chr8 128750540 128750541 CM057723 + 1 DP rs4645959 MYC Breast cancer: increased risk: association with TGCCCCTCAACGTTAGCTTCACCAACAGGA[A/G]CTATGACCTCGACTACGACTCGGTGCAGCC 15929079 ############################################################## chr16:89573838-89575702 SPG7 10 chr16 88684949 88685000 11111 2 chr16 88685200 88685265 11111 2 chr16 88829996 88830284 11000 3 chr16 89386846 89386955 10000 1 chr16 89396609 89396710 11000 1 chr16 89460400 89460700 10000 1 chr16 89479400 89479471 10000 1 chr16 89483747 89484000 10000 1 chr16 89484861 89485119 10000 2 chr16 89496966 89497181 10000 2 chr16 89574911 89574912 CM115498 + 1 DM NULL SPG7 Spastic paraplegia CTCGGCCGCTGTGGGGCCCAGGCCCGGCCT[G/A]GAGTCCAGGGTTCCCCGCCAGGCCCGGGAG 21623769 chr16 89574853 89574854 CM041446 + 1 DM NULL SPG7 Spastic paraplegia aacATGGCCGTGCTGCTGCTGCTGCTCCGT[G/T]CCCTCCGCCGGGGTCCAGGCCCGGGTCCTC 14985266 chr16 89574848 89574849 CI115505 + 6 DM? NULL SPG7 Spastic paraplegia GGCCAACATGGCCGTGCTGCTGCTGCTGCT[-/GCT]CCGTGCCCTCCGCCGGGGTCCAGGCCCGGG 21623769 chr16 89574829 89574830 CD1311241 + 5 DM NULL SPG7 Spastic paraplegia: autosomal recessive TCACGCAGGCGCGGCTTTCAGGCCAACATG[G/-]CCGTGCTGCTGCTGCTGCTCCGTGCCCTCC 23733235 chr16 89574828 89574829 CM129282 + 1 DM NULL SPG7 Spastic paraplegia atcacgcaggcgcggctttcaggccaacAT[G/A]GCCGTGCTGCTGCTGCTGCTCCGTGCCCTC 22964162 chr16 89574826 89574827 CM129306 + 1 DM NULL SPG7 Spastic paraplegia ggatcacgcaggcgcggctttcaggccaac[A/G]TGGCCGTGCTGCTGCTGCTGCTCCGTGCCC 23065789 chr16 89574826 89574827 CM061216 + 1 DM NULL SPG7 Spastic paraplegia ggatcacgcaggcgcggctttcaggccaac[A/T]TGGCCGTGCTGCTGCTGCTGCTCCGTGCCC 16534102 ############################################################## chr16:87901995-87903846 SLC7A5 9 chr16 87508474 87508584 10000 1 chr16 87518379 87518603 10100 1 chr16 87875400 87875524 00000 2 chr16 87875702 87876044 00000 1 chr16 87876360 87876873 00000 1 chr16 87889832 87890135 00000 1 chr16 88684949 88685000 11111 2 chr16 88685200 88685265 11111 2 chr16 88829996 88830284 11000 3 chr16 87902907 87902908 CM068227 - 1 DM? rs148183733 SLC7A5 Phenylketonuria modifier GCGCGGACGGCTCGGCGCCGGCAGGCGAGG[G/A]CGAGGGCGTGACCCTGCAGCGGAACATCAC 16972176 ############################################################## chr22:37414711-37416484 MPST 8 chr22 36757686 36757830 11000 1 chr22 36758232 36758416 10000 1 chr22 36766215 36766783 00000 2 chr22 37427859 37428154 10000 2 chr22 37428872 37429026 10111 4 chr22 37429118 37429285 10111 4 chr22 37430000 37430562 10100 2 chr22 37966600 37966685 11110 1 chr22 37415492 37415493 CR067847 - 3 FP NULL TST Reduced promoter activity CCTGGGGAGCTGCGGCCGGGGGTTTGAACC[G/C]GCCAACTTCTCCAGCCGGCCGGGGCGAGCG 16790311 chr22 37414983 37414984 CR067848 - 3 FP rs7288429 TST Reduced promoter activity GCGCTGGGCCCCCGGGCCGGCTGGGAGGGG[C/T]GGGGCCGGCTTTCCAGAGGGAATCTGCAAA 16790311 ############################################################## chr22:29192031-29192221 XBP1 8 chr22 29204427 29204477 10000 1 chr22 29204726 29205247 11000 3 chr22 29307721 29307934 11101 4 chr22 29308027 29308120 11101 4 chr22 29328259 29328475 10000 1 chr22 29329393 29329503 10101 1 chr22 29375452 29375800 11000 2 chr22 29419298 29419504 11100 2 chr22 29192150 29192151 CM083798 - 1 FP rs149590204 XBP1 Reduced transactivating function GGGAATGAAGTGAGGCCAGTGGCCGGGTCT[G/C]CTGAGTCCGCAGCACTCAGACTACGTGCAC 18775308 ############################################################## chr16:89611101-89611967 SPG7 7 chr16 88684949 88685000 11111 2 chr16 88685200 88685265 11111 2 chr16 89460400 89460700 10000 1 chr16 89479400 89479471 10000 1 chr16 89483747 89484000 10000 1 chr16 89484861 89485119 10000 2 chr16 89496966 89497181 10000 2 chr16 89611140 89611141 CM129284 + 1 DM NULL SPG7 Spastic paraplegia TTTTGGACGGTGCTCTGATGAGGCCAGGCC[G/A]ACTGGACCGGCACGTCTTCATTGATCTCCC 22964162 ############################################################## chr16:67976400-67978800 LCAT 6 chr16 67150596 67151046 10000 2 chr16 67211893 67211968 10100 1 chr16 67479484 67479599 11000 2 chr16 67891800 67892040 10000 3 chr16 68366379 68366587 10000 1 chr16 68826279 68826400 11010 4 chr16 67977974 67977975 CD054361 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGGGCCGCCCGGCTCCCCATGGCAGTGG[G/-]TGACGCTGCTGCTGGGGCTGCTGCTCCCTC 15994445 chr16 67977970 67977971 CM053947 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency GGCCGCCCGGCTCCCCATGGCAGTGGGTGA[C/T]GCTGCTGCTGGGGCTGCTGCTCCCTCCTGC 15994445 chr16 67977919 67977920 CM960923 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TCCCTCCTGCCGCCCCCTTCTGGCTCCTCA[A/T]TGTGCTCTTCCCCCCGCACACCACGCCCAA 9007616 chr16 67977904 67977905 CM960924 - 1 DM NULL LCAT Fish eye disease CCTTCTGGCTCCTCAATGTGCTCTTCCCCC[C/A]GCACACCACGCCCAAGGCTGAGCTCAGTAA 8620346 chr16 67977904 67977905 CM920399 - 1 DM rs121908051 LCAT Lecithin:cholesterol acyltransferase deficiency CCTTCTGGCTCCTCAATGTGCTCTTCCCCC[C/T]GCACACCACGCCCAAGGCTGAGCTCAGTAA 1571050 chr16 67977903 67977904 CI910573 - 6 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CTTCTGGCTCCTCAATGTGCTCTTCCCCCC[-/C]GCACACCACGCCCAAGGCTGAGCTCAGTAA 1662503 chr16 67977903 67977904 CD098959 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CTTCTGGCTCCTCAATGTGCTCTTCCCCCC[G/-]CACACCACGCCCAAGGCTGAGCTCAGTAAC 19515369 chr16 67977895 67977896 CM983876 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TCCTCAATGTGCTCTTCCCCCCGCACACCA[C/T]GCCCAAGGCTGAGCTCAGTAACCACACACG 9741700 chr16 67977860 67977864 CD044146 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GCCCAAGGCTGAGCTCAGTAACCACACACG[GCCCG/-]TCATCCTCGGTAAGCCCCCACCAGGCCCCT 15150357 chr16 67977851 67977852 CM074913 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency CTCAGTAACCACACACGGCCCGTCATCCTC[G/A]gtaagcccccaccaggcccctgatgcacca 17452402 chr16 67977110 67977111 CM960925 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ccagagtgagggctgctgctcacagTGCCC[G/A]GCTGCCTGGGGAATCAGCTAGAAGCCAAGC 8807342 chr16 67977103 67977104 CM973683 - 1 DM NULL LCAT Fish eye disease gagggctgctgctcacagTGCCCGGCTGCC[T/C]GGGGAATCAGCTAGAAGCCAAGCTGGACAA 9180249 chr16 67977101 67977102 CM950746 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency gggctgctgctcacagTGCCCGGCTGCCTG[G/C]GGAATCAGCTAGAAGCCAAGCTGGACAAAC 7711728 chr16 67977061 67977062 CM053949 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TAGAAGCCAAGCTGGACAAACCAGATGTGG[T/A]GAACTGGATGTGCTACCGCAAGACAGAGGA 15994445 chr16 67977049 67977050 CM133453 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TGGACAAACCAGATGTGGTGAACTGGATGT[G/A]CTACCGCAAGACAGAGGACTTCTTCACCAT 23522979 chr16 67977016 67977017 CM045659 - 1 DM NULL LCAT Reduced high density lipoprotein-cholesterol ACCGCAAGACAGAGGACTTCTTCACCATCT[G/A]GCTGGATCTCAACATGTTCCTACCCCTTGG 15297675 chr16 67976987 67976988 CM066907 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TGGCTGGATCTCAACATGTTCCTACCCCTT[G/C]GGGTAGACTGCTGGATCGATAACACCAGgt 16216249 chr16 67976984 67976985 CD984654 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GCTGGATCTCAACATGTTCCTACCCCTTGG[GG/-]TAGACTGCTGGATCGATAACACCAGGTACA 9746267 chr16 67976975 67976976 CM074914 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency AACATGTTCCTACCCCTTGGGGTAGACTGC[T/C]GGATCGATAACACCAGgtacagccatgtgc 17526537 chr16 67976974 67976975 CM119387 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ACATGTTCCTACCCCTTGGGGTAGACTGCT[G/C]GATCGATAACACCAGgtacagccatgtgct 21901787 chr16 67976969 67976970 CM086845 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TTCCTACCCCTTGGGGTAGACTGCTGGATC[G/A]ATAACACCAGgtacagccatgtgctccacc 18397721 chr16 67976870 67976871 CM930462 - 1 DM rs121908055 LCAT Lecithin:cholesterol acyltransferase deficiency agtggcacccccgccccgcagGGTTGTCTA[C/A]AACCGGAGCTCTGGGCTCGTGTCCAACGCC 8432868 chr16 67976851 67976852 CM140963 - 1 DM rs35673026 LCAT Increased HDL cholesterol levels agGGTTGTCTACAACCGGAGCTCTGGGCTC[G/A]TGTCCAACGCCCCTGGTGTCCAGATCCGCG 24507774 chr16 67976848 67976849 CM058320 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency GTTGTCTACAACCGGAGCTCTGGGCTCGTG[T/C]CCAACGCCCCTGGTGTCCAGATCCGCGTCC 15994445 chr16 67976842 67976843 CM930463 - 1 DM rs28940886 LCAT Lecithin:cholesterol acyltransferase deficiency TACAACCGGAGCTCTGGGCTCGTGTCCAAC[G/A]CCCCTGGTGTCCAGATCCGCGTCCCTGGCT 8432868 chr16 67976824 67976825 CM043856 - 1 DM rs140068549 LCAT Fish eye disease CTCGTGTCCAACGCCCCTGGTGTCCAGATC[C/T]GCGTCCCTGGCTTTGGCAAGACCTACTCTG 9261271 chr16 67976809 67976810 CM045660 - 1 DM rs199560940 LCAT Reduced high density lipoprotein-cholesterol CCTGGTGTCCAGATCCGCGTCCCTGGCTTT[G/A]GCAAGACCTACTCTGTGGAGTACCTGGACA 15297675 chr16 67976803 67976804 CM086846 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GTCCAGATCCGCGTCCCTGGCTTTGGCAAG[A/G]CCTACTCTGTGGAGTACCTGGACAGCAGCA 18397721 chr16 67976789 67976790 BM1127416 - 1 DM NULL LCAT Reduced plasma HDL cholesterol CCCTGGCTTTGGCAAGACCTACTCTGTGGA[G/T]TACCTGGACAGCAGCAAGCTGGCAGgtttg 21875686 chr16 67976788 67976789 CX119390 - 4 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CCCTGGCTTTGGCAAGACCTACTCTGTGGA[GT/TA]ACCTGGACAGCAGCAAGCTGGCAGGTTTGT 21901787 chr16 67976788 67976789 CM117828 - 1 DM NULL LCAT Reduced plasma HDL cholesterol CCTGGCTTTGGCAAGACCTACTCTGTGGAG[T/A]ACCTGGACAGCAGCAAGCTGGCAGgtttgt 21875686 chr16 67976665 67976666 CX973696 - 4 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CCCCCGGTGCTGCTGGTCCCCCCACAGGGT[AC/T]CTGCACACACTGGTGCAGAACCTGGTCAAC 9162740 chr16 67976657 67976658 CM910250 - 1 DM rs121908050 LCAT Lecithin:cholesterol acyltransferase deficiency ctgctggtccccccacagGGTACCTGCACA[C/T]ACTGGTGCAGAACCTGGTCAACAATGGCTA 2052566 chr16 67976634 67976635 CM950747 - 1 DM rs121908057 LCAT Lecithin:cholesterol acyltransferase deficiency CTGCACACACTGGTGCAGAACCTGGTCAAC[A/G]ATGGCTACGTGCGGGACGAGACTGTGCGCG 8675648 chr16 67976622 67976623 CM930464 - 1 DM rs28940887 LCAT Lecithin:cholesterol acyltransferase deficiency GTGCAGAACCTGGTCAACAATGGCTACGTG[C/T]GGGACGAGACTGTGCGCGCCGCCCCCTATG 8432868 chr16 67976621 67976622 CM960926 - 1 DM NULL LCAT Fish eye disease TGCAGAACCTGGTCAACAATGGCTACGTGC[G/A]GGACGAGACTGTGCGCGCCGCCCCCTATGA 8620346 chr16 67976608 67976609 CD992520 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency TCAACAATGGCTACGTGCGGGACGAGACTG[TG/-]CGCGCCGCCCCCTATGACTGGCGGCTGGAG 10487497 chr16 67976607 67976608 CM043857 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency AACAATGGCTACGTGCGGGACGAGACTGTG[C/T]GCGCCGCCCCCTATGACTGGCGGCTGGAGC 15256764 chr16 67976606 67976607 CM950748 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ACAATGGCTACGTGCGGGACGAGACTGTGC[G/A]CGCCGCCCCCTATGACTGGCGGCTGGAGCC 7607641 chr16 67976604 67976605 CM058321 - 1 DM? NULL LCAT Lecithin:cholesterol acyltransferase deficiency AATGGCTACGTGCGGGACGAGACTGTGCGC[G/A]CCGCCCCCTATGACTGGCGGCTGGAGCCCG 15994445 chr16 67976603 67976604 CM910251 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGCTACGTGCGGGACGAGACTGTGCGCG[C/G]CGCCCCCTATGACTGGCGGCTGGAGCCCGg 1681161 chr16 67976603 67976604 CI910574 - 6 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGCTACGTGCGGGACGAGACTGTGCGCG[-/GCG]CCGCCCCCTATGACTGGCGGCTGGAGCCCG 1681161 chr16 67976597 67976598 CM041788 - 1 DP NULL LCAT Dyslipidaemia: risk: association with ACGTGCGGGACGAGACTGTGCGCGCCGCCC[C/T]CTATGACTGGCGGCTGGAGCCCGgtgagtg 15110745 chr16 67976594 67976595 CM962678 - 1 DM NULL LCAT Fish eye disease TGCGGGACGAGACTGTGCGCGCCGCCCCCT[A/G]TGACTGGCGGCTGGAGCCCGgtgagtgtct 8820100 chr16 67976586 67976587 CM900150 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GAGACTGTGCGCGCCGCCCCCTATGACTGG[C/T]GGCTGGAGCCCGgtgagtgtctctgcggat 2370048 chr16 67976512 67976513 CS961608 - 2 DM NULL LCAT Fish eye disease tggggcaggtgccccagaccccagctgccc[T/C]gaccccttccacccgctgcagGCCAGCAGG 8755645 chr16 67976476 67976477 CM930465 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency cttccacccgctgcagGCCAGCAGGAGGAG[T/A]ACTACCGCAAGCTCGCAGGGCTGGTGGAGG 8445342 chr16 67976470 67976471 CM930466 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency cccgctgcagGCCAGCAGGAGGAGTACTAC[C/T]GCAAGCTCGCAGGGCTGGTGGAGGAGATGC 8432868 chr16 67976438 67976439 CD951764 - 5 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency CAAGCTCGCAGGGCTGGTGGAGGAGATGCA[C/-]GCTGCCTATGGGAAGCCTGTCTTCCTCATT 7658165 chr16 67976429 67976430 CM973684 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency AGGGCTGGTGGAGGAGATGCACGCTGCCTA[T/G]GGGAAGCCTGTCTTCCTCATTGGCCACAGC 9180249 chr16 67976409 67976410 CM023637 - 1 DM rs376973514 LCAT Reduced high density lipoprotein-cholesterol ACGCTGCCTATGGGAAGCCTGTCTTCCTCA[T/C]TGGCCACAGCCTCGGCTGTCTACACTTGCT 12048121 chr16 67976409 67976410 CI076962 - 6 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ACGCTGCCTATGGGAAGCCTGTCTTCCTCA[-/A]TTGGCCACAGCCTCGGCTGTCTACACTTGC 17439325 chr16 67976407 67976408 CM113967 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency GCTGCCTATGGGAAGCCTGTCTTCCTCATT[G/C]GCCACAGCCTCGGCTGTCTACACTTGCTCT 21597230 chr16 67976400 67976401 CM044018 - 1 DM NULL LCAT Lecithin:cholesterol acyltransferase deficiency ATGGGAAGCCTGTCTTCCTCATTGGCCACA[G/A]CCTCGGCTGTCTACACTTGCTCTATTTCCT 15150357 ############################################################## chr12:89744500-89744859 DUSP6 6 chr12 89737885 89738000 11111 3 chr12 89751170 89751566 11000 4 chr12 89776940 89777200 11111 4 chr12 89778400 89778458 11100 2 chr12 89778821 89778934 10000 1 chr12 89783939 89784200 10111 2 chr12 89744658 89744659 CM133838 - 1 DM? NULL DUSP6 Kallmann syndrome TCAGCTCTGACTCTTCCTCGGACATCGAGT[C/T]TGACCTTGACCGAGACCCCAATAGTGCAAC 23643382 chr12 89744637 89744638 CM133839 - 1 DM? rs143946794 DUSP6 Kallmann syndrome ACATCGAGTCTGACCTTGACCGAGACCCCA[A/G]TAGTGCAACAGACTCGGATGGTAGTCCGCT 23643382 ############################################################## chr14:95078466-95079209 SERPINA3 5 chr14 94525031 94525361 10000 3 chr14 94841881 94842755 11010 3 chr14 94842017 94842305 11010 2 chr14 94843141 94843287 11010 4 chr14 94843464 94843584 11010 4 chr14 95078677 95078678 CR013120 + 3 DFP rs1884082 SERPINA3 Increased plasma ACT concentration CACTTGGTTGTCCTGGCATTTCCCAAGCAG[G/T]GGGAGGAGTTCTCTGCAGGAATAAATAAGC 11702211 ############################################################## chr12:89745048-89748840 DUSP6 5 chr12 89737885 89738000 11111 3 chr12 89751170 89751566 11000 4 chr12 89776940 89777200 11111 4 chr12 89778400 89778458 11100 2 chr12 89778821 89778934 10000 1 chr12 89745588 89745589 CM133841 - 1 DM? NULL DUSP6 Hypogonadotropic hypogonadism: idiopathic CAGAAGGGTAACCTGCCGGTGCGCGCGCTC[T/A]TCACGCGCGGCGAGGACCGGGACCGCTTCA 23643382 ############################################################## chr8:103249003-103249378 RRM2B 4 chr8 103251011 103251275 11110 2 chr8 103251508 103251559 11110 2 chr8 103251508 103251744 11110 2 chr8 103249078 103249079 CS110394 - 2 FP rs28999675 RRM2B Altered p53 binding tcttgacctaaattgttgtcctgacatgcc[C/G]aggcatgtcttccaactgggtgaccagaaa 20817676 ############################################################## chr6:64516103-64516400 EYS 4 chr6 64219713 64219834 10111 1 chr6 64219999 64220333 11010 4 chr6 64223987 64225064 11010 4 chr6 64237640 64237872 11101 2 chr6 64516211 64516212 CM121681 - 1 DM NULL EYS Retinitis pigmentosa: autosomal recessive TCAGTGGCACAGATGCCTTTGGATACACCT[C/A]ATTCCTGGCTTATTCACGGATCTCAGACAT 22302105 chr6 64516133 64516134 CD107724 - 5 DM NULL EYS Retinitis pigmentosa TCCACCTGAAGTTTCAGCTGGCAAACAACC[A/-]CTCAGCACTGCAAAATAACTTGATATTTTT 21069908 ############################################################## chr22:29195280-29197100 XBP1 4 chr22 29307721 29307934 11101 4 chr22 29308027 29308120 11101 4 chr22 29328259 29328475 10000 1 chr22 29329393 29329503 10101 1 chr22 29196757 29196758 CR032722 - 3 DFP rs2269577 XBP1 Bipolar disorder: increased risk: association with AAATCCGTTTGTGGAGGACACGCTCCCGCA[C/G]GTAACCCCCCGCGGAAAATGACCCCAAGTA 12949534 ############################################################## chr22:21212446-21213725 SNAP29 4 chr22 21305600 21305762 10000 1 chr22 21306241 21306452 10000 2 chr22 21307089 21307374 10000 2 chr22 21308165 21308464 10000 2 chr22 21213621 21213622 CD052504 + 5 DM NULL SNAP29 CEDNIK syndrome GCCCTCATGTACGAGTCCGAGAAGGTTGGG[G/-]TCGCCTCTTCCGAGGTGAGCCTGGGGCAGG 15968592 chr22 21213427 21213431 CD130519 + 5 DM NULL SNAP29 CEDNIK syndrome CCATGTCAGCTTACCCTAAAAGCTACAATC[CGTTC/-]GACGACGACGGGGAGGACGAAGGCGCCCGG 23231787 chr22 21212476 21212477 CR014437 + 3 DP rs165596 SNAP29 Schizophrenia: association with GGTCGCGGAATAAAAAGCAGGTGAAATCGG[A/G]AGCAGAACCCCAGGTCTTGACCCCTGGTCC 11317222 ############################################################## chr2:21266600-21267374 APOB 4 chr2 20395800 20396166 11010 3 chr2 20643214 20643400 10010 3 chr2 20927906 20928184 10110 1 chr2 21295421 21295571 10000 1 chr2 21266775 21266783 CD068106 - 5 DP rs17240441 APOB Oligoasthenoteratozoospermia: association with ACCCGCCGAGGCCCGCGCTGCTGGCGCTGC[TGGCGCTGC/-]CTGCGCTGCTGCTGCTGCTGCTGGCGGGCG 17071710 chr2 21266735 21266736 CS032058 - 2 DM NULL APOB Hypobetalipoproteinaemia TGCTGCTGCTGCTGGCGGGCGCCAGGGCCG[G/A]tgagtgcgcggccgctctgcgggcgcagag 12872264 ############################################################## chr19:1206944-1207083 STK11 4 chr19 1415598 1415748 10000 1 chr19 1424395 1424592 10000 1 chr19 2173933 2174320 10110 1 chr19 934885 935198 10010 2 chr19 1207081 1207082 CM981862 + 1 DM rs137854584 STK11 Peutz-Jeghers syndrome GGCAAGTACCTGATGGGGGACCTGCTGGGG[G/T]AAGGCTCTTACGGCAAGGTGAAGGAGGTGC 9428765 chr19 1207081 1207082 CI983226 + 6 DM NULL STK11 Peutz-Jeghers syndrome GCAAGTACCTGATGGGGGACCTGCTGGGGG[-/G]AAGGCTCTTACGGCAAGGTGAAGGAGGTGC 9428765 chr19 1207081 1207082 CD012011 + 5 DM rs121913319 STK11 Peutz-Jeghers syndrome GGCAAGTACCTGATGGGGGACCTGCTGGGG[G/-]AAGGCTCTTACGGCAAGGTGAAGGAGGTGC 11389158 chr19 1207077 1207087 CD044165 + 5 DM NULL STK11 Peutz-Jeghers syndrome CATCGGCAAGTACCTGATGGGGGACCTGCT[GGGGGAAGGCT/-]CTTACGGCAAGGTGAAGGAGGTGCTGGACT 15188174 chr19 1207072 1207073 CI134903 + 6 DM NULL STK11 Peutz-Jeghers syndrome AGCTCATCGGCAAGTACCTGATGGGGGACC[-/C]TGCTGGGGGAAGGCTCTTACGGCAAGGTGA 23718779 chr19 1207072 1207073 CD044164 + 5 DM NULL STK11 Peutz-Jeghers syndrome AAGCTCATCGGCAAGTACCTGATGGGGGAC[C/-]TGCTGGGGGAAGGCTCTTACGGCAAGGTGA 15188174 chr19 1207070 1207071 CD991881 + 5 DM NULL STK11 Peutz-Jeghers syndrome CCAAGCTCATCGGCAAGTACCTGATGGGGG[A/-]CCTGCTGGGGGAAGGCTCTTACGGCAAGGT 9887330 chr19 1207069 1207070 CI994398 + 6 DM NULL STK11 Peutz-Jeghers syndrome CCAAGCTCATCGGCAAGTACCTGATGGGGG[-/G]ACCTGCTGGGGGAAGGCTCTTACGGCAAGG 9934767 chr19 1207069 1207070 CI041206 + 6 DM NULL STK11 Peutz-Jeghers syndrome CCAAGCTCATCGGCAAGTACCTGATGGGGG[-/GG]ACCTGCTGGGGGAAGGCTCTTACGGCAAGG 15121768 chr19 1207069 1207070 CD062237 + 5 DM NULL STK11 Peutz-Jeghers syndrome GCCAAGCTCATCGGCAAGTACCTGATGGGG[G/-]ACCTGCTGGGGGAAGGCTCTTACGGCAAGG 16582077 chr19 1207067 1207069 CD012010 + 5 DM NULL STK11 Peutz-Jeghers syndrome GGGCCAAGCTCATCGGCAAGTACCTGATGG[GGG/-]ACCTGCTGGGGGAAGGCTCTTACGGCAAGG 11389158 chr19 1207063 1207080 CX983287 + 4 DM NULL STK11 Peutz-Jeghers syndrome AAGCGGGCCAAGCTCATCGGCAAGTACCTG[ATGGGGGACCTGCTGGGG/CTGGGA]GAAGGCTCTTACGGCAAGGTGAAGGAGGTG 9837816 chr19 1207059 1207060 CM051648 + 1 DM NULL STK11 Peutz-Jeghers syndrome CCGCAAGCGGGCCAAGCTCATCGGCAAGTA[C/A]CTGATGGGGGACCTGCTGGGGGAAGGCTCT 15863673 chr19 1207054 1207055 CM108293 + 1 DM NULL STK11 Peutz-Jeghers syndrome CCGCGCCGCAAGCGGGCCAAGCTCATCGGC[A/T]AGTACCTGATGGGGGACCTGCTGGGGGAAG 21118512 chr19 1207042 1207043 CM066241 + 1 DM NULL STK11 Gonadotrophin-independent precocious puberty GTCATCTACCAGCCGCGCCGCAAGCGGGCC[A/T]AGCTCATCGGCAAGTACCTGATGGGGGACC 17124587 chr19 1207039 1207040 CI055778 + 6 DM NULL STK11 Peutz-Jeghers syndrome AGGTCATCTACCAGCCGCGCCGCAAGCGGG[-/G]CCAAGCTCATCGGCAAGTACCTGATGGGGG 16287113 chr19 1207037 1207049 CD991880 + 5 DM NULL STK11 Peutz-Jeghers syndrome CCGAGGTCATCTACCAGCCGCGCCGCAAGC[GGGCCAAGCTCAT/-]CGGCAAGTACCTGATGGGGGACCTGCTGGG 10090485 chr19 1207030 1207031 CI103697 + 6 DM NULL STK11 Peutz-Jeghers syndrome ACTCCACCGAGGTCATCTACCAGCCGCGCC[-/C]GCAAGCGGGCCAAGCTCATCGGCAAGTACC 20497868 chr19 1207029 1207030 CI983225 + 6 DM NULL STK11 Peutz-Jeghers syndrome GACTCCACCGAGGTCATCTACCAGCCGCGC[-/GC]CGCAAGCGGGCCAAGCTCATCGGCAAGTAC 9760200 chr19 1207027 1207037 CD055730 + 5 DM NULL STK11 Peutz-Jeghers syndrome ATCGACTCCACCGAGGTCATCTACCAGCCG[CGCCGCAAGCG/-]GGCCAAGCTCATCGGCAAGTACCTGATGGG 16287113 chr19 1207023 1207024 CD004817 + 5 DM NULL STK11 Peutz-Jeghers syndrome CCGCATCGACTCCACCGAGGTCATCTACCA[G/-]CCGCGCCGCAAGCGGGCCAAGCTCATCGGC 11103790 chr19 1207021 1207022 CM044071 + 1 DM rs121913324 STK11 Peutz-Jeghers syndrome CACCGCATCGACTCCACCGAGGTCATCTAC[C/T]AGCCGCGCCGCAAGCGGGCCAAGCTCATCG 15188174 chr19 1207021 1207022 CD132642 + 5 DM NULL STK11 Peutz-Jeghers syndrome CACCGCATCGACTCCACCGAGGTCATCTAC[C/-]AGCCGCGCCGCAAGCGGGCCAAGCTCATCG 22775437 chr19 1207019 1207020 CD133370 + 5 DM NULL STK11 Peutz-Jeghers syndrome TCCACCGCATCGACTCCACCGAGGTCATCT[A/-]CCAGCCGCGCCGCAAGCGGGCCAAGCTCAT 23463749 chr19 1206989 1206990 CI099918 + 6 DM NULL STK11 Peutz-Jeghers syndrome GCTGATGTCGGTGGGTATGGACACGTTCAT[-/ACAT]CCACCGCATCGACTCCACCGAGGTCATCTA 19955943 chr19 1206959 1206960 CM111975 + 1 DM NULL STK11 Peutz-Jeghers syndrome CGCAGCAGCTGGGCATGTTCACGGAGGGCG[A/G]GCTGATGTCGGTGGGTATGGACACGTTCAT 21411391 ############################################################## chr16:11348998-11351744 SOCS1 4 chr16 10360200 10360271 10000 3 chr16 10412666 10412932 11000 4 chr16 11233275 11233400 10000 3 chr16 11405633 11405775 10000 1 chr16 11350155 11350156 CR097876 - 3 DFP rs33977706 SOCS1 Reduced BMI: association with ACGCCACCGCGGAAAGAGAAACCAAAAGTG[G/T]AGCTGGGGGCGGGGCCGGCAGGGGGCGGGG 19215277 ############################################################## chr14:94853523-94855281 SERPINA1 4 chr14 94841881 94842755 11010 3 chr14 94842017 94842305 11010 2 chr14 94843141 94843287 11010 4 chr14 94843464 94843584 11010 4 chr14 94854896 94854897 CS021763 - 2 DM NULL SERPINA1 Antitrypsin alpha 1 deficiency GGCACCACCACTGACCTGGGACAGTGAATC[G/A]taagtatgcctttcactgcgagaggttctg 12220457 ############################################################## chr14:94849438-94849847 SERPINA1 4 chr14 94841881 94842755 11010 3 chr14 94842017 94842305 11010 2 chr14 94843141 94843287 11010 4 chr14 94843464 94843584 11010 4 chr14 94849558 94849559 CM900181 - 1 DM rs140814100 SERPINA1 Antitrypsin alpha 1 deficiency tgtcttgcaggacaATGCCGTCTTCTGTCT[C/T]GTGGGGCATCCTCCTGCTGGCAGGCCTGTG 2227940 chr14 94849460 94849461 CM003328 - 1 DM rs138070585 SERPINA1 Asthma GGAGATGCTGCCCAGAAGACAGATACATCC[C/A]ACCATGATCAGGATCACCCAACCTTCAACA 11180610 ############################################################## chr11:116706649-116709199 APOA1 4 chr11 116678746 116679910 11111 4 chr11 116680216 116680330 10111 1 chr11 116948376 116948395 11010 3 chr11 117620023 117620075 10000 2 chr11 116708413 116708414 CR900263 - 3 DFP rs670 APOA1 Elevated serum APOA1: association with TTGCCAGGACCAGTGAGCAGCAACAGGGCC[G/A]GGGCTGGGCTTATCAGCCTCCCAGCCCAGA 1977072 chr11 116708365 116708366 CR991531 - 3 DM NULL APOA1 Apolipoprotein A1 deficiency CTCCCAGCCCAGACCCTGGCTGCAGACATA[A/C]ATAGGCCCTGCAAGAGCTGGCTGCTTAGAG 9974418 chr11 116708299 116708300 HR971651 - 3 DM NULL APOA1 Atherosclerosis with coronary artery disease GAGAAGGAGGTGCGTCCTGCTGCCTGCCCC[G/A]GTCACTCTGGCTCCCCAGCTCAAGGTTCAG HGOL chr11 116708254 116708255 CR961720 - 3 DP rs5069 APOA1 Elevated HDL-cholesterol: association with CCAGCTCAAGGTTCAGGCCTTGCCCCAGGC[C/T]GGGCCTCTGGGTACCTGAGGTCTTCTCCCG 8647374 chr11 116708060 116708061 CS991294 - 2 DM NULL APOA1 Hypoalphalipoproteinaemia TGCTGACCTTGGCCGTGCTCTTCCTGACGG[G/C]taggtgtcccctaacctagggagccaacca 9931341 chr11 116707867 116707868 CI082223 - 6 DM NULL APOA1 Hyperlipidaemia CTGGGTCTCCCCTCCCACCCTCAGGGAGCC[-/C]AGGCTCGGCATTTCTGGCAGCAAGATGAAC 17950741 chr11 116707858 116707859 CD043894 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency CCCTCCCACCCTCAGGGAGCCAGGCTCGGC[A/-]TTTCTGGCAGCAAGATGAACCCCCCCAGAG 15256764 chr11 116707850 116707851 CM940074 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency ccctcagGGAGCCAGGCTCGGCATTTCTGG[C/T]AGCAAGATGAACCCCCCCAGAGCCCCTGGG 8282791 chr11 116707837 116707838 CM890300 - 1 DM rs121912720 APOA1 Increased proapo A-1 concentration AGGCTCGGCATTTCTGGCAGCAAGATGAAC[C/G]CCCCCAGAGCCCCTGGGATCGAGTGAAGGA 2512329 chr11 116707832 116707833 CD961783 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency CGGCATTTCTGGCAGCAAGATGAACCCCCC[C/-]AGAGCCCCTGGGATCGAGTGAAGGACCTGG 8840853 chr11 116707831 116707832 CI931065 - 6 DM NULL APOA1 Apolipoprotein A1 deficiency GGCATTTCTGGCAGCAAGATGAACCCCCCC[-/C]AGAGCCCCTGGGATCGAGTGAAGGACCTGG 8240372 chr11 116707822 116707823 CM950073 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency GGCAGCAAGATGAACCCCCCCAGAGCCCCT[G/A]GGATCGAGTGAAGGACCTGGCCACTGTGTA 7583566 chr11 116707817 116707818 CM108780 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency CAAGATGAACCCCCCCAGAGCCCCTGGGAT[C/T]GAGTGAAGGACCTGGCCACTGTGTACGTGG 21122686 chr11 116707816 116707817 CM900015 - 1 DM rs28929476 APOA1 Apolipoprotein A1 deficiency AAGATGAACCCCCCCAGAGCCCCTGGGATC[G/T]AGTGAAGGACCTGGCCACTGTGTACGTGGA 2108924 chr11 116707786 116707787 CD994363 - 5 DM NULL APOA1 Hypoalphalipoproteinaemia GAGTGAAGGACCTGGCCACTGTGTACGTGG[A/-]TGTGCTCAAAGACAGCGGCAGAGACTATGT NO ID chr11 116707769 116707770 CM900016 - 1 DM rs28931574 APOA1 Amyloidotic polyneuropathy ACTGTGTACGTGGATGTGCTCAAAGACAGC[G/C]GCAGAGACTATGTGTCCCAGTTTGAAGGCT 2123470 chr11 116707765 116707766 CM042003 - 1 DM? NULL APOA1 Reduced plasma HDL cholesterol TGTACGTGGATGTGCTCAAAGACAGCGGCA[G/C]AGACTATGTGTCCCAGTTTGAAGGCTCCGC 15297675 chr11 116707751 116707752 CM940075 - 1 DM rs121912725 APOA1 HDL deficiency with periorbital xanthelasmas CTCAAAGACAGCGGCAGAGACTATGTGTCC[C/T]AGTTTGAAGGCTCCGCCTTGGGAAAACAGC 7981179 chr11 116707746 116707747 CI072539 - 6 DM NULL APOA1 HDL deficiency AGACAGCGGCAGAGACTATGTGTCCCAGTT[-/C]TGAAGGCTCCGCCTTGGGAAAACAGCTAAA 17303779 chr11 116707745 116707746 CM118605 - 1 DM NULL APOA1 Amyloidosis GACAGCGGCAGAGACTATGTGTCCCAGTTT[G/A]AAGGCTCCGCCTTGGGAAAACAGCTAAAgt 21820994 chr11 116707739 116707740 CM107344 - 1 DM rs199759119 APOA1 Hypoalphalipoproteinaemia GGCAGAGACTATGTGTCCCAGTTTGAAGGC[T/G]CCGCCTTGGGAAAACAGCTAAAgtaaggac 20884842 chr11 116707727 116707730 CD991585 - 5 DM NULL APOA1 Hypoalphalipoproteinaemia TATGTGTCCCAGTTTGAAGGCTCCGCCTTG[GGAA/-]AACAGCTAAAGTAAGGACCCAGCCTGGGGT 9931341 chr11 116707108 116707109 CM950074 - 1 DM rs121912726 APOA1 Amyloidosis tcaccctccagCCTAAAGCTCCTTGACAAC[T/C]GGGACAGCGTGACCTCCACCTTCAGCAAGC 7493166 chr11 116707077 116707078 CM920057 - 1 DM rs121912724 APOA1 Amyloidosis GGGACAGCGTGACCTCCACCTTCAGCAAGC[T/G]GCGCGAACAGCTCGGCCCTGTGACCCAGGA 1502149 chr11 116707065 116707066 CM045039 - 1 DM NULL APOA1 Amyloidosis CCTCCACCTTCAGCAAGCTGCGCGAACAGC[T/C]CGGCCCTGTGACCCAGGAGTTCTGGGATAA 15558533 chr11 116707044 116707045 CM118604 - 1 DM rs138407155 APOA1 Amyloidosis GCGAACAGCTCGGCCCTGTGACCCAGGAGT[T/A]CTGGGATAACCTGGAAAAGGAGACAGAGGG 21820994 chr11 116707038 116707046 CD984226 - 5 DM NULL APOA1 Amyloidosis GCGCGAACAGCTCGGCCCTGTGACCCAGGA[GTTCTGGGA/-]TAACCTGGAAAAGGAGACAGAGGGCCTGAG 9461086 chr11 116707034 116707035 CI091759 - 6 DM NULL APOA1 Amyloidosis CGGCCCTGTGACCCAGGAGTTCTGGGATAA[-/A]CCTGGAAAAGGAGACAGAGGGCCTGAGGCA 19324996 chr11 116707032 116707033 CM040982 - 1 DM rs372520221 APOA1 Amyloidosis GCCCTGTGACCCAGGAGTTCTGGGATAACC[T/C]GGAAAAGGAGACAGAGGGCCTGAGGCAGGA 14986480 chr11 116707006 116707007 CM910033 - 1 DM rs121912723 APOA1 Apolipoprotein A1 deficiency AACCTGGAAAAGGAGACAGAGGGCCTGAGG[C/T]AGGAGATGAGCAAGGATCTGGAGGAGGTGA 1901417 chr11 116706987 116706988 CM990165 - 1 DM rs28931575 APOA1 Amyloidosis: cardiac and cutaneous AGGGCCTGAGGCAGGAGATGAGCAAGGATC[T/C]GGAGGAGGTGAAGGCCAAGGTGCAGCCCTA 9916936 chr11 116706935 116706937 CD951577 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency GTGCAGCCCTACCTGGACGACTTCCAGAAG[AAG/-]TGGCAGGAGGAGATGGAGCTCTACCGCCAG 7670941 chr11 116706896 116706897 CM850002 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency GGAGATGGAGCTCTACCGCCAGAAGGTGGA[G/T]CCGCTGCGCGCAGAGCTCCAAGAGGGCGCG 2995392 chr11 116706850 116706851 CM064977 - 1 DM NULL APOA1 HDL deficiency CTCCAAGAGGGCGCGCGCCAGAAGCTGCAC[G/T]AGCTGCAAGAGAAGCTGAGCCCACTGGGCG 16023124 chr11 116706842 116706843 CD097561 - 5 DM NULL APOA1 HDL deficiency AGGGCGCGCGCCAGAAGCTGCACGAGCTGC[AA/-]GAGAAGCTGAGCCCACTGGGCGAGGAGATG 19473658 chr11 116706834 116706835 CM960069 - 1 DM NULL APOA1 Apolipoprotein A1 deficiency GCCAGAAGCTGCACGAGCTGCAAGAGAAGC[T/G]GAGCCCACTGGGCGAGGAGATGCGCGACCG 8840853 chr11 116706828 116706829 CM840033 - 1 FP rs121912719 APOA1 Impaired lecithin:cholesterol acyltransferase activation AGCTGCACGAGCTGCAAGAGAAGCTGAGCC[C/G]ACTGGGCGAGGAGATGCGCGACCGCGCGCG 6489332 chr11 116706825 116706826 CM973230 - 1 DM NULL APOA1 Hypoalphalipoproteinaemia TGCACGAGCTGCAAGAGAAGCTGAGCCCAC[T/G]GGGCGAGGAGATGCGCGACCGCGCGCGCGC NO ID chr11 116706795 116706796 CD044264 - 5 DM NULL APOA1 HDL deficiency CTGGGCGAGGAGATGCGCGACCGCGCGCGC[GC/-]CCATGTGGACGCGCTGCGCACGCATCTGGC 14709355 chr11 116706794 116706795 CI091758 - 6 DM NULL APOA1 Amyloidosis GGGCGAGGAGATGCGCGACCGCGCGCGCGC[-/GC]CCATGTGGACGCGCTGCGCACGCATCTGGC 19324996 chr11 116706793 116706794 CD118637 - 5 DM NULL APOA1 Amyloidosis GGCGAGGAGATGCGCGACCGCGCGCGCGCC[C/-]ATGTGGACGCGCTGCGCACGCATCTGGCCC 21820994 chr11 116706789 116706790 CM984231 - 1 DM rs121912727 APOA1 Apolipoprotein A1 deficiency AGGAGATGCGCGACCGCGCGCGCGCCCATG[T/A]GGACGCGCTGCGCACGCATCTGGCCCCCTA 9514407 chr11 116706786 116706787 CI131402 - 6 DM NULL APOA1 HDL deficiency AGATGCGCGACCGCGCGCGCGCCCATGTGG[-/GCGCGCGCGCCCATGTGG]ACGCGCTGCGCACGCATCTGGCCCCCTACA 23415437 chr11 116706780 116706781 CM980090 - 1 DM NULL APOA1 HDL deficiency GCGACCGCGCGCGCGCCCATGTGGACGCGC[T/C]GCGCACGCATCTGGCCCCCTACAGCGACGA 9714130 chr11 116706780 116706781 CM973706 - 1 DM NULL APOA1 Hypoalphalipoproteinaemia GCGACCGCGCGCGCGCCCATGTGGACGCGC[T/G]GCGCACGCATCTGGCCCCCTACAGCGACGA 9012641 chr11 116706777 116706778 CM109189 - 1 DM NULL APOA1 Reduced plasma HDL cholesterol ACCGCGCGCGCGCCCATGTGGACGCGCTGC[G/T]CACGCATCTGGCCCCCTACAGCGACGAGCT 20800056 chr11 116706766 116706767 CM118311 - 1 DP rs140770089 APOA1 Ischaemic heart disease: increased risk: association with GCCCATGTGGACGCGCTGCGCACGCATCTG[G/T]CCCCCTACAGCGACGAGCTGCGCCAGCGCT 21443680 chr11 116706762 116706763 CM890301 - 1 DM rs121912722 APOA1 Hypoalphalipoproteinaemia ATGTGGACGCGCTGCGCACGCATCTGGCCC[C/G]CTACAGCGACGAGCTGCGCCAGCGCTTGGC 2512329 chr11 116706747 116706748 CM091757 - 1 DM NULL APOA1 Amyloidosis GCACGCATCTGGCCCCCTACAGCGACGAGC[T/C]GCGCCAGCGCTTGGCCGCGCGCCTTGAGGC 19324996 chr11 116706739 116706740 CM093569 - 1 DM rs28931573 APOA1 Apolipoprotein A1 deficiency CTGGCCCCCTACAGCGACGAGCTGCGCCAG[C/T]GCTTGGCCGCGCGCCTTGAGGCTCTCAAGG 19318685 chr11 116706738 116706739 CM990166 - 1 DM rs121912728 APOA1 Amyloidosis: cardiac and cutaneous TGGCCCCCTACAGCGACGAGCTGCGCCAGC[G/C]CTTGGCCGCGCGCCTTGAGGCTCTCAAGGA 10198255 chr11 116706735 116706736 CM993804 - 1 DM rs121912729 APOA1 Amyloidosis: cardiac and systemic CCCCCTACAGCGACGAGCTGCGCCAGCGCT[T/C]GGCCGCGCGCCTTGAGGCTCTCAAGGAGAA 10487826 chr11 116706733 116706734 CM021486 - 1 DM rs121912730 APOA1 Amyloidosis CCCTACAGCGACGAGCTGCGCCAGCGCTTG[G/C]CCGCGCGCCTTGAGGCTCTCAAGGAGAACG 12050338 chr11 116706723 116706724 CM042669 - 1 DM NULL APOA1 Hypoalphalipoproteinaemia ACGAGCTGCGCCAGCGCTTGGCCGCGCGCC[T/C]TGAGGCTCTCAAGGAGAACGGCGGCGCCAG 15464323 chr11 116706723 116706724 CM004884 - 1 DM NULL APOA1 Amyloidosis ACGAGCTGCGCCAGCGCTTGGCCGCGCGCC[T/A]TGAGGCTCTCAAGGAGAACGGCGGCGCCAG 10854214 chr11 116706710 116706712 CD072343 - 5 DM NULL APOA1 HDL deficiency CAGCGCTTGGCCGCGCGCCTTGAGGCTCTC[AAG/-]GAGAACGGCGGCGCCAGACTGGCCGAGTAC 17303779 chr11 116706704 116706705 CD023237 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency GGCCGCGCGCCTTGAGGCTCTCAAGGAGAA[C/-]GGCGGCGCCAGACTGGCCGAGTACCACGCC 11996960 chr11 116706664 116706665 CM117827 - 1 DM rs121912717 APOA1 Reduced plasma HDL cholesterol AGACTGGCCGAGTACCACGCCAAGGCCACC[G/A]AGCATCTGAGCACGCTCAGCGAGAAGGCCA 21875686 chr11 116706650 116706651 CD910476 - 5 DM NULL APOA1 Apolipoprotein A1 deficiency CCACGCCAAGGCCACCGAGCATCTGAGCAC[G/-]CTCAGCGAGAAGGCCAAGCCCGCGCTCGAG 1898657 ############################################################## chr5:149109314-149112416 PPARGC1B 3 chr5 149111657 149111788 11111 3 chr5 149112100 149112367 11111 2 chr5 149112513 149112773 11110 2 chr5 149109479 149109480 CR119830 + 3 DFP rs62382271 PPARGC1B Airway hyperreactivity: in asthma: association with CCGGCCTTCGAACGAGGTCCTATTCCTTCT[C/T]GAGCCTCAGTTTCCCCAGCTGTGCAGAAGA 21692888 ############################################################## chr4:69681600-69681948 UGT2B10 3 chr4 69736539 69737082 10000 2 chr4 69737520 69737755 10000 3 chr4 69737994 69738000 10000 1 chr4 69681936 69681937 CM080590 + 1 FP rs61750900 UGT2B10 Reduced enzyme activity TCTTCAGCTTCCATTCTTTTTGATCCCAAC[G/T]ACTCATCCACTCTTAAACTTGAAGTTTATC 18300939 chr4 69681849 69681850 CM125239 + 1 DM? NULL UGT2B10 Autism TGGGCCGCAGAATACAGCCTTTGGATGAAT[A/G]TGAAGACAATCCTGAAAGAACTTGTTCAGA 22495311 ############################################################## chr22:24235966-24237923 MIF 3 chr22 23421631 23421793 10000 1 chr22 23422283 23422423 10000 1 chr22 23558977 23559000 10100 3 chr22 24236392 24236393 CR014136 + 3 DFP rs755622 MIF Juvenile idiopathic arthritis: association with GCCGATTTCTAGCCGCCAAGTGGAGAACAG[G/C]TTGGAGCGGTGCGCCGGGCTTAGCGGCGGT 11508429 ############################################################## chr2:219134031-219135700 AAMP 3 chr2 218196446 218196564 11000 1 chr2 219596438 219596583 10000 1 chr2 219597137 219597620 11100 2 chr2 219135284 219135285 CM042102 + 1 DM rs121434511 PNKD Paroxysmal nonkinesiogenic dyskinesia tgaacATGGCGGCGGTGGTAGCTGCTACGG[C/T]GCTGAAGGGCCGGGGGGCGAGAAATGCCCG 15262732 chr2 219135278 219135279 CM042101 + 1 DM rs121434512 PNKD Paroxysmal nonkinesiogenic dyskinesia gggatctgaacATGGCGGCGGTGGTAGCTG[C/T]TACGGCGCTGAAGGGCCGGGGGGCGAGAAA 15262732 ############################################################## chr2:211420822-211424380 CPS1 3 chr2 211423693 211423713 11101 1 chr2 211423930 211424145 11101 2 chr2 211424376 211424571 11001 2 chr2 211421582 211421583 CD114399 + 5 DM NULL CPS1 Carbamoyl phosphate synthetase I deficiency CAAGACCTGGCATCAGGCTCCTTTCTGTCA[A/-]GGTAATACCCATATTGATTGTTTCTGATAA 21120950 ############################################################## chr21:46330167-46330433 ITGB2 3 chr21 46889222 46889800 10000 3 chr21 46892600 46892679 10000 1 chr21 46893068 46893167 10000 1 chr21 46330297 46330298 CS109070 - 2 DM NULL ITGB2 Leukocyte adhesion deficiency ggcccagagcacccactcaccagccggcct[C/A]gtccctcagTCCTCTCTCAGGAGTGCACGA 21195692 chr21 46330279 46330280 CD022556 - 5 DM NULL ITGB2 Leukocyte adhesion deficiency CACCAGCCGGCCTCGTCCCTCAGTCCTCTC[TC/-]AGGAGTGCACGAAGTTCAAGGTCAGCAGCT 11882363 chr21 46330268 46330269 CI120024 - 6 DM NULL ITGB2 Leukocyte adhesion deficiency TCGTCCCTCAGTCCTCTCTCAGGAGTGCAC[-/C]GAAGTTCAAGGTCAGCAGCTGCCGGGAATG 22134107 chr21 46330267 46330268 CM099882 - 1 DM rs189250711 ITGB2 Leukocyte adhesion deficiency cgtccctcagTCCTCTCTCAGGAGTGCACG[A/T]AGTTCAAGGTCAGCAGCTGCCGGGAATGCA 19864007 chr21 46330240 46330241 CM120009 - 1 DM NULL ITGB2 Leukocyte adhesion deficiency ACGAAGTTCAAGGTCAGCAGCTGCCGGGAA[T/A]GCATCGAGTCGGGGCCCGGCTGCACCTGGT 22134107 chr21 46330226 46330227 CD120025 - 5 DM NULL ITGB2 Leukocyte adhesion deficiency CAGCAGCTGCCGGGAATGCATCGAGTCGGG[G/-]CCCGGCTGCACCTGGTGCCAGAAGCTGGTA 22134107 chr21 46330218 46330227 CD931014 - 5 DM NULL ITGB2 Leukocyte adhesion deficiency TCAGCAGCTGCCGGGAATGCATCGAGTCGG[GGCCCGGCTG/-]CACCTGGTGCCAGAAGCTGGTAAGTGCCTC 7901025 chr21 46330216 46330217 CM120010 - 1 DM NULL ITGB2 Leukocyte adhesion deficiency CGGGAATGCATCGAGTCGGGGCCCGGCTGC[A/C]CCTGGTGCCAGAAGCTGgtaagtgcctcct 22134107 ############################################################## chr19:11353800-11354017 LDLR 3 chr19 11199927 11200245 11010 4 chr19 11201146 11201303 10000 1 chr19 11202981 11203247 10000 4 chr19 11353955 11353958 CD116518 - 5 DM NULL DOCK6 Adams-Oliver syndrome CAGCTTCTCTGGCTTCCGTCCAGCCACGCT[AACT/-]GTCACAAACTTCTTTAAGCAGGTGTCCTAC 21820096 ############################################################## chr17:58676594-58678952 PPM1D 3 chr17 57930628 57930799 10101 1 chr17 59413420 59413666 11010 4 chr17 59413909 59414149 11010 1 chr17 58678082 58678083 CM137526 + 1 DM? NULL PPM1D Breast and/or ovarian cancer CGCCGCCGTTCCTCCGTGGCCTTTTTCGCC[G/A]TGTGCGACGGGCACGGCGGGCGGGAGGCGG 23649806 chr17 58677906 58677907 CM137525 + 1 DM? rs373862041 PPM1D Breast and/or ovarian cancer CGGCTGAAGAAAAGCCCTCGCCGCGGCGGT[C/G]GCTGTCTCAGCCGTTGCCTCCGCGGCCGTC 23649806 ############################################################## chr16:68820532-68821000 NFATC3 3 chr16 68118177 68118358 11010 1 chr16 68118603 68118919 11101 2 chr16 68119918 68120034 11000 1 chr16 68820946 68820947 CR121020 + 3 DP rs9929218 CDH1 Colorectal cancer: increased risk: association with GAATGATTCAAAGGTTCTGAATTCCACAAC[G/A]GCTTTCCTGTGTTTTTGCAGCCAGATTCAG 21761138 ############################################################## chr11:818814-820554 PNPLA2 3 chr11 580172 580400 10000 3 chr11 587900 588180 10000 3 chr11 655260 655517 11000 2 chr11 819906 819907 CS108505 + 2 DM NULL PNPLA2 Neutral lipid storage disease with myopathy CCACGGCGCTGGTCACCGGGGTCTGCCTGG[G/A]tgagcggggccgggggcggcaggcgggggg 21073837 chr11 819742 819743 CM1211340 + 1 DM NULL PNPLA2 Neutral lipid storage disease with myopathy cgccgcgATGTTTCCCCGCGAGAAGACGTG[G/A]AACATCTCGTTCGCGGGCTGCGGCTTCCTC 22990388 ############################################################## chr8:11560575-11560973 GATA4 2 chr8 11560574 11560847 11101 3 chr8 11561443 11561757 11101 1 chr8 11560864 11560865 CR123494 + 3 DM NULL GATA4 Ventricular septal defect TCTCCGGCTCGCAGCCCCGCTGCGCTGGGG[C/A]CTCCAGGCTCTGACGCCGACTCCCAACTCA 22500510 chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 ############################################################## chr7:75543790-75545549 ENSG00000127948 2 chr7 75563000 75563095 10000 2 chr7 75563771 75563958 10000 2 chr7 75544268 75544269 CR111712 + 3 FP rs72553972 POR Reduced transcription GGAACCACGCACTTTCATTTCTCTGCCGGG[C/A]GACCCAGCCGAGCCGCGAGGGGGCGTGGCC 21070833 ############################################################## chr7:5568964-5571966 ACTB 2 chr7 4752361 4752562 11110 2 chr7 6425200 6425294 10000 1 chr7 5569255 5569256 CM122509 - 1 DM rs281875331 ACTB Baraitser-Winter syndrome GATGATGATATCGCCGCGCTCGTCGTCGAC[A/G]ACGGCTCCGGCATGTGCAAGGCCGGCTTCG 22366783 ############################################################## chr6:43737115-43739800 VEGFA 2 chr6 43233328 43233579 11000 3 chr6 43258653 43258800 11010 2 chr6 43738897 43738898 CM103230 + 1 DM NULL VEGFA Left ventricular outflow tract obstruction GCCTCGGGCCGGGGAGGAAGAGTAGCTCGC[C/T]GAGGCGCCGAGGAGAGCGGGCCGCCCCACA 20420808 chr6 43738465 43738466 CI103232 + 6 DM NULL VEGFA Left ventricular outflow tract obstruction CAGTCGCGCTGACGGACAGACAGACAGACA[-/GACA]CCGCCCCCAGCCCCAGCTACCACCTCCTCC 20420808 chr6 43738350 43738351 CR021404 + 3 DFP rs2010963 VEGFA Diabetic retinopathy: association with GAGAGCGCGCGGGCGTGCGAGCAGCGAAAG[G/C]GACAGGGGCAAAGTGAGTGACCTGCTTTTG 11978667 chr6 43737830 43737831 CR022118 + 3 DFP rs1570360 VEGFA Prostate cancer: association with CGCAGAGCCCGGGCCCGAGCCGCGTGTGGA[G/A]GGGCTGAGGCTCGCCTGTCCCCGCCCCCCG 12067976 chr6 43737486 43737487 CR084643 + 3 DFP rs833061 VEGFA Pterygium formation: association with TGAGTGAGTGTGTGCGTGTGGGGTTGAGGG[C/T]GTTGGAGCGGGGAGAAGGCCAGGGGTCACT 18434853 ############################################################## chr6:36645275-36645958 CDKN1A 2 chr6 36576047 36576162 10000 1 chr6 36576996 36577199 10000 2 chr6 36645588 36645589 CR095246 + 3 DFP rs762624 CDKN1A Systemic lupus erythematosus: increased risk: association with GAGTTAGGTCACCAGACTTCTCTGAGCCCC[C/A]GTTTCCCCAGCAGTGTATACGGGCTATGTG 19262578 ############################################################## chr6:31829858-31830030 ENSG00000204385 2 chr6 31786956 31787125 10000 1 chr6 31787311 31787400 10000 2 chr6 31829968 31829969 CM004861 - 1 DM NULL NEU1 Sialidosis 1 ctttgttgacccttcctcctcccatgacag[G/A]TGCAGCCGCTGGTGACCATGGAGCAACTGC 11063730 chr6 31829965 31829966 CM085586 - 1 DM NULL NEU1 Sialidosis 1 tgttgacccttcctcctcccatgacagGTG[C/T]AGCCGCTGGTGACCATGGAGCAACTGCTGT 18343720 chr6 31829925 31829926 CM000762 - 1 DM NULL NEU1 Sialidosis 2 TGACCATGGAGCAACTGCTGTGGGTGAGCG[G/T]GAGACAGATCGGCTCAGTGGACACCTTCCG 10767332 chr6 31829889 31829890 CM022431 - 1 DM rs104893985 NEU1 Sialidosis 2 AGATCGGCTCAGTGGACACCTTCCGCATCC[C/T]GCTCATCACAGCCACTCCGCGGGGCACTCT 11829139 ############################################################## chr6:31708266-31708453 ENSG00000204410 2 chr6 31786956 31787125 10000 1 chr6 31787311 31787400 10000 2 chr6 31708328 31708329 CM056007 + 1 DFP rs2075789 MSH5 Weakened protein interaction GCGGCCTCCTCCGGCTTCCCCAGCCCGGCC[C/T]CAGTGCCGGGCCCCAGGGAGGCCGAGGAGG 15907804 ############################################################## chr6:31632108-31632271 ENSG00000201207 2 chr6 31786956 31787125 10000 1 chr6 31787311 31787400 10000 2 chr6 31632134 31632135 CM062443 - 1 DP rs3130618 GPANK1 Leukemia: risk: association with CAGAGTCCACCCTGGATGGGGCTGCAGCCC[G/T]AGCTTTCTATGAGGCCCTGATTGGGGATGA 16574953 ############################################################## chr4:185393528-185396226 IRF2 2 chr4 185393261 185393369 11010 2 chr4 185394028 185394195 10010 2 chr4 185396170 185396171 CR015895 - 3 DP NULL IRF2 Atopic dermatitis: association with GCCCTGCTAACTGGATGGTCGCAGCCCCGT[G/A]CCTTCGCCGGACGCCCTCCTGGAACCTTCA 11721886 ############################################################## chr4:140374181-140375729 RAB33B 2 chr4 140609969 140610156 10000 2 chr4 140610637 140610801 11010 3 chr4 140375485 140375486 CM126178 + 1 DM NULL RAB33B Dyggve-Melchior-Clausen syndrome ATAATCGTGATCGGCGACTCCAATGTGGGC[A/C]AGACATGCCTGACCTACCGCTTCTGCGCTG 22652534 ############################################################## chr3:47516600-47517813 SCAP 2 chr3 46989525 46989973 11000 3 chr3 46990798 46990953 10000 1 chr3 47517344 47517345 CR024618 - 3 FP NULL SCAP Reduced promoter activity GAGCGCGCACGCCGCGCTCCGCCCCTGCTG[C/T]CGCCCCCGTCGCCGCCGCCGCCGCCGCCGC 12202990 ############################################################## chr3:47204605-47206395 SETD2 2 chr3 46989525 46989973 11000 3 chr3 46990798 46990953 10000 1 chr3 47205396 47205397 CM1212390 - 1 DM? NULL SETD2 Autism cagccgctcccgATGAAGCAGCTGCAGCCG[C/T]AGCCGCCTCCGAAGATGGGGGATTTCTACG 23160955 ############################################################## chr22:42016189-42017891 DESI1 2 chr22 41501701 41501854 10000 1 chr22 41502572 41502771 11000 1 chr22 42017264 42017265 CR126260 + 3 DFP rs132770 XRCC6 Renal cell carcinoma: increased risk: association with GATATAGTGCGCACATGCGTGATGACGTAG[A/G]GGGCGTTGATTGGGACCGAGTACAGGGCCC 22455395 chr22 42016699 42016700 CR124934 + 3 DFP rs2267437 XRCC6 Renal cell carcinoma: increased risk: association with TCGTGGCCCAAGTCTCCCCACCTCGGCCAG[C/G]CGCCACCCTCTGGCCTGGCTCCCGCCCTCC 22593040 ############################################################## chr22:40742172-40743040 ADSL 2 chr22 41501701 41501854 10000 1 chr22 41502572 41502771 11000 1 chr22 40742638 40742639 CM990116 + 1 DM NULL ADSL Adenylosuccinate lyase deficiency CCTCTTGCCTCCCGCTATGCCAGCCCGGAG[A/T]TGTGCTTCGTGTTTAGCGACAGGTATAAAT 10090474 chr22 40742631 40742632 CM082477 + 1 DM NULL ADSL Adenylosuccinate lyase deficiency CCGCTCACCTCTTGCCTCCCGCTATGCCAG[C/G]CCGGAGATGTGCTTCGTGTTTAGCGACAGG 18524658 chr22 40742570 40742571 CM001049 + 1 DM NULL ADSL Adenylosuccinate lyase deficiency cctggcggggtcgcagggttgggATGGCGG[C/T]TGGAGGCGATCATGGTTCGCCCGACAGCTA 10888601 chr22 40742569 40742570 CM044204 + 1 DM NULL ADSL Adenylosuccinate lyase deficiency ccctggcggggtcgcagggttgggATGGCG[G/C]CTGGAGGCGATCATGGTTCGCCCGACAGCT 15571235 chr22 40742567 40742568 CM990115 + 1 DM rs143083947 ADSL Adenylosuccinate lyase deficiency caccctggcggggtcgcagggttgggATGG[C/T]GGCTGGAGGCGATCATGGTTCGCCCGACAG 10090474 chr22 40742563 40742564 CM068481 + 1 DM NULL ADSL Adenylosuccinate lyase deficiency agtccaccctggcggggtcgcagggttggg[A/G]TGGCGGCTGGAGGCGATCATGGTTCGCCCG 16839792 chr22 40742563 40742564 CM021059 + 1 DM NULL ADSL Adenylosuccinate lyase deficiency agtccaccctggcggggtcgcagggttggg[A/T]TGGCGGCTGGAGGCGATCATGGTTCGCCCG 12070256 chr22 40742514 40742515 CR021773 + 3 DM NULL ADSL Adenylosuccinate lyase deficiency CCCGTCCTGCCCTGGCCTCCAGGTTTCCGC[T/C]TCCGCTCTTCCCTGGTCCAGTCCACCCTGG 10958654 ############################################################## chr2:227663005-227665620 IRS1 2 chr2 227665240 227665536 11000 2 chr2 227665891 227665996 11000 4 chr2 227663901 227663902 CR033690 - 3 DP rs13306465 IRS1 Diabetes: NIDDM: association with AAGGATATTTAATTTGCCTCGGGAATCGCT[G/A]CTTCCAGAGGGGAACTCAGGAGGGAAGGCG 14633864 ############################################################## chr2:220081400-220081555 ABCB6 2 chr2 219596438 219596583 10000 1 chr2 219597137 219597620 11100 2 chr2 220081525 220081526 CM121055 - 1 FP rs148458820 ABCB6 Lan(-) blood group variant gGTTCGGTCAGCAGCCCAACAGTCTACCTG[G/A]CGAGATTTTGGCAGGAAGCTCCGCCTCCTG 22246506 chr2 220081416 220081417 CM128904 - 1 FP rs57467915 ABCB6 Lan(-) blood group variant CTCATCTGCCTGGGGCTCATGGGTTTGGAA[C/T]GGGCACTCAATGTGTTGGTGCCTATATTCT 22958180 ############################################################## chr2:219646280-219647511 CYP27A1 2 chr2 219596438 219596583 10000 1 chr2 219597137 219597620 11100 2 chr2 219646984 219646985 CM1312296 + 1 DM? NULL CYP27A1 Coronary artery disease GGCCGTGGCCTCTGCCCCCACGGGGCCAGA[G/A]CCAAGGCCGCGATCCCTGCCGCCCTCCCCT 24080357 chr2 219646982 219646983 CM1312295 + 1 DM? rs192494481 CYP27A1 Coronary artery disease CCGGCCGTGGCCTCTGCCCCCACGGGGCCA[G/A]AGCCAAGGCCGCGATCCCTGCCGCCCTCCC 24080357 chr2 219646978 219646979 CD119150 + 5 DM NULL CYP27A1 Cerebrotendinous xanthomatosis GGGGCCGGCCGTGGCCTCTGCCCCCACGGG[G/-]CCAGAGCCAAGGCCGCGATCCCTGCCGCCC 22018287 chr2 219646946 219646947 CM1312294 + 1 DM? NULL CYP27A1 Coronary artery disease TGGGCTGCGCGAGGCTGAGGTGGGCGCTGC[G/A]AGGGGCCGGCCGTGGCCTCTGCCCCCACGG 24080357 chr2 219646925 219646926 CI065820 + 6 DM NULL CYP27A1 Cerebrotendinous xanthomatosis AGCACAACCCATGGCTGCGCTGGGCTGCGC[-/TGGGCTGCGC]GAGGCTGAGGTGGGCGCTGCGAGGGGCCGG 17030721 chr2 219646916 219646925 CD016076 + 5 DM NULL CYP27A1 Cerebrotendinous xanthomatosis CAGGCGCGCGAGCACAACCCATGGCTGCGC[TGGGCTGCGC/-]GAGGCTGAGGTGGGCGCTGCGAGGGGCCGG 11181744 chr2 219646910 219646911 CI952428 + 6 DM NULL CYP27A1 Cerebrotendinous xanthomatosis AGGTGCAGGCGCGCGAGCACAACCCATGGC[-/C]TGCGCTGGGCTGCGCGAGGCTGAGGTGGGC 7860076 chr2 219646907 219646908 CM1311613 + 1 DM NULL CYP27A1 Cerebrotendinous xanthomatosis ccaaaggtgcaggcgcgcgagcacaacccA[T/C]GGCTGCGCTGGGCTGCGCGAGGCTGAGGTG 24174808 ############################################################## chr2:211420822-211423863 CPS1 2 chr2 211423271 211423713 11101 1 chr2 211423930 211424054 11101 2 chr2 211421582 211421583 CD114399 + 5 DM NULL CPS1 Carbamoyl phosphate synthetase I deficiency CAAGACCTGGCATCAGGCTCCTTTCTGTCA[A/-]GGTAATACCCATATTGATTGTTTCTGATAA 21120950 ############################################################## chr2:128175775-128176916 PROC 2 chr2 128936337 128936478 11000 2 chr2 129063911 129064087 10000 2 chr2 128176058 128176059 CR004299 + 3 DM NULL PROC Protein C deficiency GGCAGGACGGCGAACTTGCAGTATCTCCAC[G/A]ACCCGCCCCTGTGAGTCCCCCTCCAGGCAG 10805275 chr2 128176047 128176048 CR004298 + 3 DM NULL PROC Protein C deficiency GCTGTCATGGCGGCAGGACGGCGAACTTGC[A/C]GTATCTCCACGACCCGCCCCTGTGAGTCCC 10805275 chr2 128176040 128176041 CR952208 + 3 FP rs1799810 PROC Reduced Protein C levels ACTCCAGGCTGTCATGGCGGCAGGACGGCG[A/T]ACTTGCAGTATCTCCACGACCCGCCCCTGT 7749828 chr2 128176036 128176037 CR942016 + 3 DM rs2069936 PROC Protein C deficiency TCGAACTCCAGGCTGTCATGGCGGCAGGAC[G/A]GCGAACTTGCAGTATCTCCACGACCCGCCC LSDB chr2 128176005 128176006 CR930879 + 3 DM NULL PROC Protein C deficiency GCCAAGCAAATATTTGTGGTTATGGATTAA[C/T]TCGAACTCCAGGCTGTCATGGCGGCAGGAC 8292730 chr2 128176001 128176002 CR941558 + 3 DM NULL PROC Protein C deficiency GAGGGCCAAGCAAATATTTGTGGTTATGGA[T/C]TAACTCGAACTCCAGGCTGTCATGGCGGCA 7881411 chr2 128175994 128175995 CR036052 + 3 DM NULL PROC Protein C deficiency: type I CAGTGCTGAGGGCCAAGCAAATATTTGTGG[T/G]TATGGATTAACTCGAACTCCAGGCTGTCAT 12960605 chr2 128175988 128175989 CR930880 + 3 DM NULL PROC Protein C deficiency AGGCCTCAGTGCTGAGGGCCAAGCAAATAT[T/A]TGTGGTTATGGATTAACTCGAACTCCAGGC 8499565 chr2 128175984 128175985 CR001859 + 3 DM NULL PROC Protein C deficiency AGGGAGGCCTCAGTGCTGAGGGCCAAGCAA[A/G]TATTTGTGGTTATGGATTAACTCGAACTCC 10942114 chr2 128175983 128175984 CR930881 + 3 DM NULL PROC Protein C deficiency GAGGGAGGCCTCAGTGCTGAGGGCCAAGCA[A/G]ATATTTGTGGTTATGGATTAACTCGAACTC 8292730 chr2 128175875 128175876 CR952209 + 3 FP rs1799809 PROC Reduced Protein C levels CCTCCCTCCCTGCTGGACGGCATCCTTGGT[A/G]GGCAGAGGTGGGCTTCGGGCAGAACAAGCC 7749828 chr2 128175862 128175863 CR952210 + 3 FP rs1799808 PROC Reduced Protein C levels GGTTTTGCCCTCACCTCCCTCCCTGCTGGA[T/C]GGCATCCTTGGTGGGCAGAGGTGGGCTTCG 7749828 ############################################################## chr2:128173713-128176496 PROC 2 chr2 128173413 128173609 11000 1 chr2 128173719 128174404 11000 2 chr2 128176058 128176059 CR004299 + 3 DM NULL PROC Protein C deficiency GGCAGGACGGCGAACTTGCAGTATCTCCAC[G/A]ACCCGCCCCTGTGAGTCCCCCTCCAGGCAG 10805275 chr2 128176047 128176048 CR004298 + 3 DM NULL PROC Protein C deficiency GCTGTCATGGCGGCAGGACGGCGAACTTGC[A/C]GTATCTCCACGACCCGCCCCTGTGAGTCCC 10805275 chr2 128176040 128176041 CR952208 + 3 FP rs1799810 PROC Reduced Protein C levels ACTCCAGGCTGTCATGGCGGCAGGACGGCG[A/T]ACTTGCAGTATCTCCACGACCCGCCCCTGT 7749828 chr2 128176036 128176037 CR942016 + 3 DM rs2069936 PROC Protein C deficiency TCGAACTCCAGGCTGTCATGGCGGCAGGAC[G/A]GCGAACTTGCAGTATCTCCACGACCCGCCC LSDB chr2 128176005 128176006 CR930879 + 3 DM NULL PROC Protein C deficiency GCCAAGCAAATATTTGTGGTTATGGATTAA[C/T]TCGAACTCCAGGCTGTCATGGCGGCAGGAC 8292730 chr2 128176001 128176002 CR941558 + 3 DM NULL PROC Protein C deficiency GAGGGCCAAGCAAATATTTGTGGTTATGGA[T/C]TAACTCGAACTCCAGGCTGTCATGGCGGCA 7881411 chr2 128175994 128175995 CR036052 + 3 DM NULL PROC Protein C deficiency: type I CAGTGCTGAGGGCCAAGCAAATATTTGTGG[T/G]TATGGATTAACTCGAACTCCAGGCTGTCAT 12960605 chr2 128175988 128175989 CR930880 + 3 DM NULL PROC Protein C deficiency AGGCCTCAGTGCTGAGGGCCAAGCAAATAT[T/A]TGTGGTTATGGATTAACTCGAACTCCAGGC 8499565 chr2 128175984 128175985 CR001859 + 3 DM NULL PROC Protein C deficiency AGGGAGGCCTCAGTGCTGAGGGCCAAGCAA[A/G]TATTTGTGGTTATGGATTAACTCGAACTCC 10942114 chr2 128175983 128175984 CR930881 + 3 DM NULL PROC Protein C deficiency GAGGGAGGCCTCAGTGCTGAGGGCCAAGCA[A/G]ATATTTGTGGTTATGGATTAACTCGAACTC 8292730 chr2 128175875 128175876 CR952209 + 3 FP rs1799809 PROC Reduced Protein C levels CCTCCCTCCCTGCTGGACGGCATCCTTGGT[A/G]GGCAGAGGTGGGCTTCGGGCAGAACAAGCC 7749828 chr2 128175862 128175863 CR952210 + 3 FP rs1799808 PROC Reduced Protein C levels GGTTTTGCCCTCACCTCCCTCCCTGCTGGA[T/C]GGCATCCTTGGTGGGCAGAGGTGGGCTTCG 7749828 ############################################################## chr20:3869052-3871225 PANK2 2 chr20 2928145 2928384 11001 3 chr20 4116113 4116362 10000 2 chr20 3870380 3870381 CS123099 + 2 DM? NULL PANK2 Pantothenate kinase-associated neurodegeneration CGAAAGCCTGAGGAAAAAGCGGCCGCgtaa[G/C]tgttccgtggggcgccctcccggcccgccc 22221393 chr20 3870362 3870363 CD033549 + 5 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration GGTCTCCCGCCAGCGCGTCGAAAGCCTGAG[G/-]AAAAAGCGGCCGCGTAAGTGTTCCGTGGGG 12510040 chr20 3870320 3870321 CD033548 + 5 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration CACGAGGCGGGATCGACTGGGCTCTTACAG[C/-]GGCCCCACCTCGGTCTCCCGCCAGCGCGTC 12510040 chr20 3870317 3870318 CM014230 + 1 DM rs137852960 PANK2 Pantothenate kinase-associated neurodegeneration GGGCACGAGGCGGGATCGACTGGGCTCTTA[C/G]AGCGGCCCCACCTCGGTCTCCCGCCAGCGC 11479594 chr20 3870316 3870317 CI014279 + 6 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration GGGCACGAGGCGGGATCGACTGGGCTCTTA[-/A]CAGCGGCCCCACCTCGGTCTCCCGCCAGCG 11479594 chr20 3870292 3870293 CI033578 + 6 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration GCCCGCGGTCGGGGCCTCGGCTGAGGGCAC[-/A]GAGGCGGGATCGACTGGGCTCTTACAGCGG 12510040 chr20 3870291 3870292 CI014278 + 6 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration TGCCCGCGGTCGGGGCCTCGGCTGAGGGCA[-/A]CGAGGCGGGATCGACTGGGCTCTTACAGCG 11479594 chr20 3870289 3870296 HD060002 + 5 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration CGGTGCCCGCGGTCGGGGCCTCGGCTGAGG[GCACGAGG/-]CGGGATCGACTGGGCTCTTACAGCGGCCCC HGOL chr20 3870280 3870281 CM056982 + 1 DM rs137852969 PANK2 Pantothenate kinase-associated neurodegeneration GCAGCGCGTCGGTGCCCGCGGTCGGGGCCT[C/A]GGCTGAGGGCACGAGGCGGGATCGACTGGG 16240131 chr20 3870262 3870274 CD057036 + 5 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration CACTGCGGCGCCGGGCGAGCAGCGCGTCGG[TGCCCGCGGTCGG/-]GGCCTCGGCTGAGGGCACGAGGCGGGATCG 15565311 chr20 3870195 3870196 CM014229 + 1 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration TCCGCCACCTCCGTCTCGTCGGCTGGGGAG[C/T]AGGCGGCCGGGGACCCCGAAGGGCGGCGGC 11479594 chr20 3870192 3870193 CM0910168 + 1 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration GCTTCCGCCACCTCCGTCTCGTCGGCTGGG[G/T]AGCAGGCGGCCGGGGACCCCGAAGGGCGGC 20193558 chr20 3870181 3870182 CM066953 + 1 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration GCCACGGCAGGGCTTCCGCCACCTCCGTCT[C/A]GTCGGCTGGGGAGCAGGCGGCCGGGGACCC 16758184 chr20 3870148 3870149 CM033426 + 1 DM NULL PANK2 Pantothenate kinase-associated neurodegeneration TGGGAGGGGGCCGGCTCGGCGCGCCCATGG[A/G]GCGCCACGGCAGGGCTTCCGCCACCTCCGT 12510040 chr20 3869884 3869885 CM1312590 + 1 DM? rs148036492 PANK2 HARP syndrome CCTCCACCACCCTCTCCCCGCCCCGTCACG[A/T]TAGCCTCTCATTGGACGGAGGCACGGTCAA 24215330 ############################################################## chr20:32890137-32891483 AHCY 2 chr20 32402343 32402485 11000 1 chr20 32955090 32955400 10101 2 chr20 32891110 32891111 CR096336 - 3 FP rs57344541 AHCY Reduced transcription CAGTTCCTGTTCCCAGACTGAGGCCCAGCC[C/T]CCTTCGCCCGTTTCCATCACGAGTGCCGCC 19619139 ############################################################## chr20:22563256-22566284 FOXA2 2 chr20 22487938 22488175 11101 3 chr20 22505800 22506072 10000 4 chr20 22563582 22563583 CM005502 - 1 DM? rs201350646 FOXA2 Impaired glucose homeostasis GCGGGCGCCATGGCGGGCATGGGCGGCTCG[G/C]CCGGGGCGGCCGGCGTGGCGGGCATGGGGC 10899756 ############################################################## chr19:8426833-8429511 ANGPTL4 2 chr19 8426731 8427144 11111 3 chr19 8427429 8427517 10000 1 chr19 8429434 8429435 CM090117 + 1 DM NULL ANGPTL4 Lower plasma triglyceride level AGCGCGCTGGAGCGGCGCCTGAGCGCGTGC[G/A]GGTCCGCCTGTCAGGGAACCGAGGGGTCCA 19075393 chr19 8429323 8429324 CM071551 + 1 DFP rs116843064 ANGPTL4 Lower plasma triglyceride level: association with TCCAAGTCGCCGCGCTTTGCGTCCTGGGAC[G/A]AGATGAATGTCCTGGCGCACGGACTCCTGC 17322881 chr19 8429285 8429286 CM096421 + 1 DM? NULL ANGPTL4 Lower plasma triglyceride level CCGCCGTGCTACTGAGCGCTCAGGGCGGAC[C/G]CGTGCAGTCCAAGTCGCCGCGCTTTGCGTC 19602640 ############################################################## chr1:94882933-94884845 ABCD3 2 chr1 94895680 94895685 10000 1 chr1 94895832 94895972 10000 1 chr1 94884084 94884085 CM920599 + 1 DM rs121917999 ABCD3 Zellweger syndrome ACTTGACGGCGCGAAACTCCTCGCTGGCTG[G/A]TGCCGCGTTCCTGCTGCTCTGCCTGCTCCA 1301993 ############################################################## chr19:45438876-45439660 21183 2 chr19 45981696 45981977 10111 1 chr19 45982389 45982541 10010 1 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 ############################################################## chr19:39897231-39898096 ZFP36 2 chr19 39147207 39147382 10000 1 chr19 39149288 39149539 10000 3 chr19 39897293 39897294 CR087182 + 3 DFP rs251864 ZFP36 Rheumatoid arthritis: shorter duration: association with ACCCCTTCCCCACGCATTCCCCGCTCGGTC[A/G]CGGCTGTCCACCGGCCAAGCTCAGGCGCGT 18536977 ############################################################## chr19:39137869-39138649 ACTN4 2 chr19 39147207 39147382 10000 1 chr19 39149288 39149539 10000 3 chr19 39138352 39138353 CR095216 + 3 DM NULL ACTN4 Glomerulosclerosis: focal and segmental CGGGCAGAGGGGCGGGAGCTGAGGCGGGAG[C/T]GGACAGGCTGGTGGGCGAGCGAGAGGCGGC 19666657 ############################################################## chr19:2477223-2477315 GADD45B 2 chr19 2173933 2174320 10110 1 chr19 2242200 2242412 11000 1 chr19 2477277 2477278 CR087500 + 3 DFP rs2024144 GADD45B Inter-ventricular septum hypertrophy: assoc ACGGTGAGTCGGGCCTCTGCCCTGCCCCGC[C/T]ACGCCCGGGCACCTGGGCCGGTGTTTGTCA 18515079 ############################################################## chr19:2253409-2254154 PLEKHJ1 2 chr19 2236262 2236427 11101 1 chr19 2236627 2237010 11101 2 chr19 2253732 2253733 CM130388 - 1 FP rs74521370 JSRP1 Downregulates activity of DHPR and affects skeletal muscle excitation-contraction coupling CGCAGACCGCGCCGCCCCTGCAGCCGCCGC[C/T]GCCGCCCCCGGCCCTGAGCGAGGAGCTGCC 22927026 ############################################################## chr19:11353800-11354017 ILF3 2 chr19 10763691 10763692 10000 1 chr19 10764477 10764851 10111 3 chr19 11353955 11353958 CD116518 - 5 DM NULL DOCK6 Adams-Oliver syndrome CAGCTTCTCTGGCTTCCGTCCAGCCACGCT[AACT/-]GTCACAAACTTCTTTAAGCAGGTGTCCTAC 21820096 ############################################################## chr17:79994614-79995843 DCXR 2 chr17 79823716 79824051 10101 2 chr17 80197634 80198208 10000 1 chr17 79995506 79995507 CS119207 - 2 DM rs375243154 DCXR Pentosuria GCCGGGTGCTGGTCACCGGGGCAGGCAAAG[G/A]tgggcggcggggaaaggtgggcaaaggccg 22042873 ############################################################## chr17:79478817-79482500 ENSG00000184009 2 chr17 79823716 79824051 10101 2 chr17 80197634 80198208 10000 1 chr17 79479141 79479142 CM094470 - 1 DM NULL ACTG1 Deafness: dominant progressive cagGGCGTCATGGTGGGCATGGGCCAGAAG[G/A]ACTCCTACGTGGGCGACGAGGCCCAGAGCA 19548389 chr17 79479026 79479027 CM032825 - 1 DM rs28999111 ACTG1 Deafness: dominant progressive GGGACGACATGGAGAAGATCTGGCACCACA[C/T]CTTCTACAACGAGCTGCGCGTGGCCCCGGA 13680526 chr17 79478939 79478940 CM032826 - 1 DM rs104894544 ACTG1 Deafness: dominant progressive CCCCCCTGAACCCCAAGGCCAACAGAGAGA[A/T]GATGACTCAGgtgaggctcggccgacgccc 13680526 chr17 79478938 79478939 CM094417 - 1 DM rs267606630 ACTG1 Deafness: dominant progressive CCCCCTGAACCCCAAGGCCAACAGAGAGAA[G/C]ATGACTCAGgtgaggctcggccgacgcccg 19477959 chr17 79478933 79478934 CM122513 - 1 DM rs281875325 ACTG1 Baraitser-Winter syndrome TGAACCCCAAGGCCAACAGAGAGAAGATGA[C/T]TCAGgtgaggctcggccgacgcccgtgctc 22366783 ############################################################## chr17:79478283-79478718 ENSG00000184009 2 chr17 79823716 79824051 10101 2 chr17 80197634 80198208 10000 1 chr17 79478652 79478653 CM085221 - 1 DM rs281875330 ACTG1 Deafness: dominant progressive ctgactaagccgccccttgtcccttctcag[A/G]TTATGTTTGAGACCTTCAACACCCCGGCCA 18804074 chr17 79478612 79478613 CM122514 - 1 DM rs11549190 ACTG1 Baraitser-Winter syndrome AGACCTTCAACACCCCGGCCATGTACGTGG[C/T]CATCCAGGCCGTGCTGTCCCTCTACGCCTC 22366783 chr17 79478552 79478553 CM122515 - 1 DM rs281875326 ACTG1 Baraitser-Winter syndrome CTGGGCGCACCACTGGCATTGTCATGGACT[C/T]TGGAGACGGGGTCACCCACACGGTGCCCAT 22366783 chr17 79478531 79478532 CM1310523 - 1 DM NULL ACTG1 Deafness TCATGGACTCTGGAGACGGGGTCACCCACA[C/T]GGTGCCCATCTACGAGGGCTACGCCCTCCC 23967202 chr17 79478457 79478458 CM127916 - 1 DM NULL ACTG1 Hearing loss CGTCTGGACCTGGCTGGCCGGGACCTGACC[G/C]ACTACCTCATGAAGATCCTCACTGAGCGAG 22938506 chr17 79478408 79478409 CM122516 - 1 DM rs281875327 ACTG1 Baraitser-Winter syndrome TCACTGAGCGAGGCTACAGCTTCACCACCA[C/A]GGCCGAGCGGGAAATCGTGCGCGACATCAA 22366783 chr17 79478295 79478296 CM094418 - 1 DM rs267606631 ACTG1 Deafness: dominant progressive GCATCCTCCTCTTCTCTGGAGAAGAGCTAC[G/A]AGCTGCCCGATGGCCAGGTCATCACCATTG 19477959 ############################################################## chr17:79477947-79478188 ENSG00000184009 2 chr17 79823716 79824051 10101 2 chr17 80197634 80198208 10000 1 chr17 79478104 79478105 CM033588 - 1 DM rs28999112 ACTG1 Deafness: dominant progressive GTATGGAATCTTGCGGCATCCACGAGACCA[C/T]CTTCAACTCCATCATGAAGTGTGACGTGGA 14684684 chr17 79478042 79478043 CM1310318 - 1 DM NULL ACTG1 Deafness ATCCGCAAAGACCTGTACGCCAACACGGTG[C/G]TGTCGGGCGGCACCACCATGTACCCGGGCA 24130743 chr17 79478023 79478024 CM132288 - 1 DM NULL ACTG1 Hearing loss: non-syndromic CCAACACGGTGCTGTCGGGCGGCACCACCA[T/C]GTACCCGGGCATTGCCGACAGGATGCAGAA 23506231 ############################################################## chr17:76133754-76134199 TK1 2 chr17 76183230 76183474 10001 1 chr17 76183976 76184265 10001 4 chr17 76133896 76133897 CS123370 + 2 DP rs16970849 TMC8 Cervical cancer: association with CTTCGCCTTCCTGGTCACCCTGCCTCGGAG[G/A]tgagccccggggtgacacctccagaagggc 21387292 ############################################################## chr17:62492453-62493799 ENSG00000256525 2 chr17 62227562 62228030 11010 3 chr17 62264800 62264931 10000 3 chr17 62492780 62492781 CM115937 - 1 DM? rs200118378 POLG2 Mitochondrial disease AGTGGGTGCCACCCCGGCTTCGGACCCTTG[G/A]GCGTAGAGTTGCGGAAGAACCTGGCCGCAG 21555342 chr17 62492630 62492631 CM115938 - 1 DM? rs149446102 POLG2 Mitochondrial disease AGTGCCTTCAGGTTAGTTTCTGCAGAAACT[C/G]TACGCGAAATCTTGCAAGACAAAGAGCTGA 21555342 ############################################################## chr17:1664758-1666852 SERPINF1 2 chr17 1666219 1666242 10000 1 chr17 1666596 1666881 10110 2 chr17 1665330 1665331 CR054284 + 3 FP rs9913583 SERPINF1 Altered promoter activity GGACGCTGGATTAGAAGGCAGCAAAAAAAG[A/C]TCTGTGCTGGCTGGAGCCCCCTCAGTGTGC 16086313 ############################################################## chr16:88923111-88924403 GALNS 2 chr16 88554365 88555102 10110 3 chr16 88829996 88830284 11000 3 chr16 88923285 88923286 CM042053 - 1 DM NULL GALNS Mucopolysaccharidosis IVa ggccggggctccgcggctcccgtggttgcc[A/G]TGGCGGCGGTTGTCGCGGCGACGAGGTGGT 15241807 chr16 88923283 88923284 CM137897 - 1 DM NULL GALNS Mucopolysaccharidosis IVa ccggggctccgcggctcccgtggttgccAT[G/A]GCGGCGGTTGTCGCGGCGACGAGGTGGTGG 23876334 chr16 88923257 88923258 CM970573 - 1 DM NULL GALNS Mucopolysaccharidosis IVa ccATGGCGGCGGTTGTCGCGGCGACGAGGT[G/A]GTGGCAGCTGTTGCTGGTGCTCAGCGCCGC 9298823 chr16 88923243 88923244 CM054751 - 1 DM NULL GALNS Mucopolysaccharidosis IVa GTCGCGGCGACGAGGTGGTGGCAGCTGTTG[C/A]TGGTGCTCAGCGCCGCGGGGATGGGGGCCT 16287098 chr16 88923219 88923220 CM042054 - 1 DM NULL GALNS Mucopolysaccharidosis IVa CTGTTGCTGGTGCTCAGCGCCGCGGGGATG[G/C]GGGCCTCGGGCGCCCCGCAGCCCCCCAACA 15241807 chr16 88923179 88923180 CM054746 - 1 DM NULL GALNS Mucopolysaccharidosis IVa GCGCCCCGCAGCCCCCCAACATCCTGCTCC[T/C]GCTCATGGACGACgtgagtgcgggcggtgg 16287098 chr16 88923175 88923180 CD013157 - 5 DM NULL GALNS Mucopolysaccharidosis IVa GGCGCCCCGCAGCCCCCCAACATCCTGCTC[CTGCTC/-]ATGGACGACGTGAGTGCGGGCGGTGGGACG 11524742 chr16 88923165 88923166 CS061284 - 2 DM NULL GALNS Mucopolysaccharidosis IV CCCAACATCCTGCTCCTGCTCATGGACGAC[G/A]tgagtgcgggcggtgggacggggcagggcc 16378744 ############################################################## chr16:8890963-8892400 PMM2 2 chr16 8944152 8944555 00000 2 chr16 8954043 8954377 10000 3 chr16 8891806 8891807 CS052054 + 2 DM NULL PMM2 Congenital disorder of glycosylation 1a GTGGATGGGACCCTCACCGCCCCGCGGCAG[G/T]taagtggcggccggcgggctgctggcagcc 15844218 chr16 8891803 8891804 CM055487 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GACGTGGATGGGACCCTCACCGCCCCGCGG[C/T]AGgtaagtggcggccggcgggctgctggca 19862844 chr16 8891800 8891801 CM055488 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a TTCGACGTGGATGGGACCCTCACCGCCCCG[C/G]GGCAGgtaagtggcggccggcgggctgctg 19862844 chr16 8891797 8891798 CM051972 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a CTCTTCGACGTGGATGGGACCCTCACCGCC[C/T]CGCGGCAGgtaagtggcggccggcgggctg 15844218 chr16 8891792 8891793 CM051971 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a TCTGCCTCTTCGACGTGGATGGGACCCTCA[C/G]CGCCCCGCGGCAGgtaagtggcggccggcg 15844218 chr16 8891783 8891784 CM055490 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GCCCAGCGCTCTGCCTCTTCGACGTGGATG[G/C]GACCCTCACCGCCCCGCGGCAGgtaagtgg 19862844 chr16 8891783 8891784 CM055489 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GCCCAGCGCTCTGCCTCTTCGACGTGGATG[G/A]GACCCTCACCGCCCCGCGGCAGgtaagtgg 12626389 chr16 8891782 8891783 CM022443 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a GGCCCAGCGCTCTGCCTCTTCGACGTGGAT[G/C]GGACCCTCACCGCCCCGCGGCAGgtaagtg 12357336 chr16 8891771 8891772 CP005304 + 4 DM NULL PMM2 Congenital disorder of glycosylation 1a TGGCAGCGCCTGGCCCAGCGCTCTGCCTCT[TC/GT]GACGTGGATGGGACCCTCACCGCCCCGCGG 11058896 chr16 8891771 8891772 CM045428 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a TGGCAGCGCCTGGCCCAGCGCTCTGCCTCT[T/G]CGACGTGGATGGGACCCTCACCGCCCCGCG 16009061 chr16 8891765 8891766 CM002090 + 1 DM rs104894532 PMM2 Congenital disorder of glycosylation 1a gggacATGGCAGCGCCTGGCCCAGCGCTCT[G/A]CCTCTTCGACGTGGATGGGACCCTCACCGC 10922383 chr16 8891763 8891764 CD003640 + 5 DM NULL PMM2 Congenital disorder of glycosylation 1a TGGGGACATGGCAGCGCCTGGCCCAGCGCT[C/-]TGCCTCTTCGACGTGGATGGGACCCTCACC 11058895 chr16 8891740 8891741 CM055485 + 1 DM NULL PMM2 Congenital disorder of glycosylation 1a tcttgtaaggtgcggctagaaactggggac[A/G]TGGCAGCGCCTGGCCCAGCGCTCTGCCTCT 18948042 ############################################################## chr16:72050818-72051517 RNU6-1061P 2 chr16 71598561 71599047 11000 2 chr16 71599427 71599722 11000 2 chr16 72050942 72050943 CM100128 + 1 DM rs267606766 DHODH Miller syndrome gtgctctgcagGTATGGATTTAACAGTCAC[G/A]GGCTTTCAGTGGTGGAACACAGGTTACGGG 19915526 ############################################################## chr16:71605874-71607744 RNU6-1061P 2 chr16 71598561 71599047 11000 2 chr16 71599427 71599722 11000 2 chr16 71607495 71607496 CM981889 - 1 DM NULL TAT Tyrosinaemia 2 cactcttttctttcagGCTTCCTATCCAGT[C/T]GGGAGGAGATTGCTTCTTATTACCACTGTC 9544843 chr16 71606553 71606554 CI087197 - 6 DM NULL TAT Tyrosinaemia 2 TCTGACAAGTGGCTGCAGCCAAGCTATTGA[-/A]CCTTTGTTTAGCTGTGTTGGCCAACCCAGG 18945316 chr16 71606548 71606549 CM062007 - 1 DM NULL TAT Tyrosinaemia 2 CAAGTGGCTGCAGCCAAGCTATTGACCTTT[G/A]TTTAGCTGTGTTGGCCAACCCAGGGCAAAA 16574453 chr16 71606193 71606194 CM981890 - 1 DM NULL TAT Tyrosinaemia 2 AGAAATCTTGGGAAATTGACCTGAAACAAC[T/G]GGAATATCTAATTGATGAAAAGACAGCTTG 9544843 chr16 71606137 71606138 CM087196 - 1 DM NULL TAT Tyrosinaemia 2 GCTTGTCTCATTGTCAATAATCCATCAAAC[C/T]CCTGTGGGTCAGTGTTCAGCAAACGTCATC 18945316 chr16 71606127 71606128 CM920662 - 1 DM rs118203915 TAT Tyrosinaemia 2 TTGTCAATAATCCATCAAACCCCTGTGGGT[C/G]AGTGTTCAGCAAACGTCATCTTCAGAAGAT 1357662 ############################################################## chr16:68820532-68821000 CYB5B 2 chr16 69458204 69458743 11101 1 chr16 69459053 69459166 10000 1 chr16 68820946 68820947 CR121020 + 3 DP rs9929218 CDH1 Colorectal cancer: increased risk: association with GAATGATTCAAAGGTTCTGAATTCCACAAC[G/A]GCTTTCCTGTGTTTTTGCAGCCAGATTCAG 21761138 ############################################################## chr16:67693548-67694993 ACD 2 chr16 67150596 67151046 10000 2 chr16 67891800 67892040 10000 3 chr16 67694606 67694607 CR051280 + 3 DFP rs72547496 PARD6A Increased glucose tolerance: association with ACAGTGCACGGTCTTGTAAGGCCAGTGGAA[A/G]TAAGAGCACACACACAGCGCTAAATAAATG 15744531 ############################################################## chr16:67189270-67189527 TRADD 2 chr16 66906662 66906677 10000 1 chr16 67479484 67479599 11000 2 chr16 67189512 67189513 CM086729 - 1 DM? NULL TRADD Autoimmune lymphoproliferative syndrome CGGACGTGCTGCAGATGCTGAAGATCCACC[G/A]CAGCGACCCGCAGCTGATCGTGCAGCTGCG 18661484 chr16 67189377 67189378 CM086727 - 1 DM? rs201869508 TRADD Acute lymphoblastic leukaemia GGAGCCTGGCGGCCGCGCTCGCCCAGCACT[C/T]GGTGCCGCTGCAACTGGAGCTGCGCGCCGG 18661484 ############################################################## chr16:66967814-66969852 FAM96B 2 chr16 67150596 67151046 10000 2 chr16 67891800 67892040 10000 3 chr16 66969539 66969540 CM077514 + 1 FP NULL CES2 Altered function CGGCAGCGAACCGAGACCAGCGAGCCGACC[A/T]TGCGGCTGCACAGACTTCGTGCGCGGCTGA 17640957 ############################################################## chr16:46722259-46724286 VPS35 2 chr16 46929935 46930162 11000 2 chr16 47533608 47533841 00000 2 chr16 46723619 46723620 CM124028 + 1 DM rs146795505 ORC6 Meier-Gorlin syndrome cgggaattgttcgctttagtgccggcgccA[T/C]GGGGTCGGAGCTGATCGGGCGCCTAGCCCC 22333897 ############################################################## chr15:80260449-80264143 BCL2A1 2 chr15 80260188 80260242 10000 1 chr15 80260797 80260975 11000 1 chr15 80263217 80263218 CM064994 - 1 DP rs3826007 BCL2A1 Colorectal cancer: increased risk: association with ACCAAGTGATGGAAAAGGAGTTTGAAGACG[G/A]CATCATTAACTGGGGAAGAATTGTAACCAT 17000706 ############################################################## chr14:94856528-94861373 SERPINA1 2 chr14 94860648 94860782 11000 3 chr14 94860945 94861696 00000 4 chr14 94856914 94856915 CR061339 - 3 DP rs8004738 SERPINA1 Chronic obstructive pulmonary disease: association with AGGGGGTCGGGCCTCCGAGGAAGGCCTAGC[C/T]GCTGCTGCTGCCAGGAATTCCAGGTTGGAG 16278826 chr14 94856657 94856658 CR061338 - 3 DP rs17751769 SERPINA1 Chronic obstructive pulmonary disease: association with AAGAAATGCCCAGGAGCTACCGAGGGCAGG[C/T]GACCTCAACCACAGCCCAGTGCTGGAGCTG 16278826 ############################################################## chr13:52585247-52586789 ATP7B 2 chr13 52572291 52572408 11100 1 chr13 52572860 52573000 11000 1 chr13 52586752 52586753 CR139978 - 3 FP rs111871296 ATP7B Decreased expression ACCTAGTCTATTCCAGTCTATATAGAAGAC[C/T]CCCAAGAAAAAGAAAGACTGCTCATTGGCC 24094725 chr13 52586149 52586150 CR139980 - 3 DM? NULL ATP7B Wilson disease GCGCACAGCGGATCGATTTTCCAGGTGCGG[A/G]GTTCACTCTTGCCGCGGTTGCTTCCTTTGG 24094725 chr13 52585933 52585934 CR139981 - 3 DM? NULL ATP7B Wilson disease GCTCCCGCACACGCGTGAGATCCCAGTACA[G/A]TGTCGGAGCGCACCAGCGCGAGGTGGCCGA 24094725 chr13 52585915 52585916 CR133405 - 3 DM NULL ATP7B Wilson disease GATCCCAGTACAGTGTCGGAGCGCACCAGC[G/A]CGAGGTGGCCGAGACCGCGGAGGAGGACAG 23518715 chr13 52585881 52585882 CR139979 - 3 FP rs28362532 ATP7B Decreased expression GGTGGCCGAGACCGCGGAGGAGGACAGGCC[T/C]CCGCCCTGCGGCGCCGGCACGGCAGAGGAC 24094725 chr13 52585861 52585862 CR139982 - 3 DM? NULL ATP7B Wilson disease AGGACAGGCCTCCGCCCTGCGGCGCCGGCA[C/T]GGCAGAGGACATTGTGGCACTGGCACGGCA 24094725 chr13 52585683 52585684 CR107554 - 3 DM NULL ATP7B Wilson disease AGGTCGGGAGGACGGCGGCGCGCAACTTTG[A/T]ATCATCCGTGTGAAGAGGGCTGCGGCTTCC 20931554 chr13 52585606 52585607 CR107556 - 3 DM NULL ATP7B Wilson disease GGGCGGTTCCCGGACCCCTGTTTGCTTTAG[A/C]GCCGAGCCGCGCCGATGCCCTCACACTCTG 20931554 chr13 52585601 52585602 CR129464 - 3 DM? rs73184332 ATP7B Wilson disease GTTCCCGGACCCCTGTTTGCTTTAGAGCCG[A/C]GCCGCGCCGATGCCCTCACACTCTGCGCCT NO ID chr13 52585596 52585597 CR971939 - 3 DM NULL ATP7B Wilson disease CGGACCCCTGTTTGCTTTAGAGCCGAGCCG[C/A]GCCGATGCCCTCACACTCTGCGCCTCCTCT 9199563 chr13 52585551 52585552 CR971937 - 3 DM NULL ATP7B Wilson disease ACTCTGCGCCTCCTCTCCCGGGACTTTAAC[A/C]CCCCGCTCTCCTCCACCGACCAGGTGACCT 9199563 chr13 52585548 52585549 CR129463 - 3 DM? rs2277448 ATP7B Wilson disease CTGCGCCTCCTCTCCCGGGACTTTAACACC[C/A]CGCTCTCCTCCACCGACCAGGTGACCTTTT NO ID chr13 52585522 52585523 CR129462 - 3 DM? NULL ATP7B Wilson disease CACCCCGCTCTCCTCCACCGACCAGGTGAC[C/G]TTTTGCTCTGAGCCAGATCAGAGAAGAATT NO ID chr13 52585509 52585510 CR016283 - 3 DM? NULL ATP7B Wilson disease TCCACCGACCAGGTGACCTTTTGCTCTGAG[C/T]CAGATCAGAGAAGAATTCGGTGTCCGTGCG 11405812 chr13 52585454 52585455 CD054306 - 5 DM NULL ATP7B Wilson disease CCGTGCGGGACGATGCCTGAGCAGGAGAGA[CA/-]GATCACAGCCAGAGAAGGGGCCAGTCGGAA 15967699 chr13 52585431 52585432 CM129452 - 1 DM? NULL ATP7B Wilson disease GAGAGACAGATCACAGCCAGAGAAGGGGCC[A/G]GTCGGAAAgtgagttttgttcccccgcgtc NO ID chr13 52585419 52585420 CS094248 - 2 DM rs369488210 ATP7B Wilson disease ACAGCCAGAGAAGGGGCCAGTCGGAAAgtg[A/T]gttttgttcccccgcgtccgcgcagcgtgc 19371217 ############################################################## chr1:230837600-230839200 GALNT2 2 chr1 230202364 230202464 10000 1 chr1 230202705 230202863 10000 1 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 ############################################################## chr1:230837600-230839200 AGT 2 chr1 230848307 230848440 10111 1 chr1 230849833 230850481 11111 4 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 ############################################################## chr1:2160546-2160994 SKI 2 chr1 2203474 2203586 11111 1 chr1 3088000 3088055 10000 1 chr1 2160554 2160555 CM129802 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GGCGAGACCATCTCGTGCTTCGTGGTGGGA[G/C]GCGAGAAGCGCCTGTGTCTGCCGCAGATTC 23023332 chr1 2160552 2160553 CM129800 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm AAGGCGAGACCATCTCGTGCTTCGTGGTGG[G/A]AGGCGAGAAGCGCCTGTGTCTGCCGCAGAT 23023332 ############################################################## chr11:116699603-116700859 APOC3 2 chr11 116678746 116679910 11111 4 chr11 116680216 116680330 10111 1 chr11 116700169 116700170 CR033992 + 3 DP rs2854116 APOC3 Insulin/NEFA levels: association with GCCTGGTCTTCTGTGCCTTTACTCCAAACA[C/T]CCCCCAGCCCAAGCCACCCACTTGTTCTCA 12697301 chr11 116700142 116700143 CR033993 + 3 DP rs2854117 APOC3 Insulin/NEFA levels: association with TAACCAGGCCTTGCCGGAGCCACTGATGCC[T/C]GGTCTTCTGTGCCTTTACTCCAAACACCCC 12697301 chr11 116699984 116699985 CR061330 + 3 FP rs2542052 APOC3 Lower serum APOC3 level GCCCTTCTCCACCAACCCCTGCCCTACACT[A/C]AGGGGGAGGCAGCGGGGGGCACACAGGGTG 16602826 ############################################################## chr11:116661967-116663604 APOA5 2 chr11 116678746 116679910 11111 4 chr11 116680216 116680330 10111 1 chr11 116662579 116662580 CR080753 - 3 FP rs651821 APOA5 Increased plasma triglyceride levels GGCCTCCCTCCACCTGTCTTCTCAGAGCAG[A/G]TAATGGCAAGCATGGCTGCCGTGCTCACCT 17766366 chr11 116662527 116662528 CS097562 - 2 DM NULL APOA5 Chylomicronemia TGCTCACCTGGGCTCTGGCTCTTCTTTCAG[G/A]tgggtctccgaccctgacttcaacgtgggg 19410254 chr11 116662523 116662524 CS108781 - 2 DM NULL APOA5 Proteinuria and dyslipidaemia CACCTGGGCTCTGGCTCTTCTTTCAGgtgg[G/C]tctccgaccctgacttcaacgtgggggtgt 21122665 chr11 116662407 116662408 CM023881 - 1 DFP rs3135506 APOA5 Increased plasma triglyceride levels: association tgattacctagtccctctccacagCGTTTT[C/G]GGCCACCCAGGCACGGAAAGGCTTCTGGGA 12417525 chr11 116662309 116662310 CM119840 - 1 DM? NULL APOA5 Hypertriglyceridaemia GAGCAGATCCATCAGCAGAAGATGGCTCGC[G/A]AGCCCGCgtgagtgcccaggggaaggggtg 21993410 chr11 116662299 116662300 CS067806 - 2 DM NULL APOA5 Hypertriglyceridaemia ATCAGCAGAAGATGGCTCGCGAGCCCGCgt[G/C]agtgcccaggggaaggggtgtaggcgaagg 16687148 ############################################################## chr10:94831603-94834147 CYP26A1 2 chr10 94831644 94831956 10100 3 chr10 94832219 94832248 10100 1 chr10 94833890 94833891 CS068378 + 2 FP rs35630863 CYP26A1 Reduced mRNA splicing efficiency ACCTTGCAGATGGTACTGCAGgtaagggag[G/C]gtggggcgggacaggctgcttccccggagc 16463413 ############################################################## chrX:23799321-23799855 SAT1 1 chrX 23801034 23801362 11111 1 chrX 23799738 23799739 CR068550 + 3 DFP rs6526342 SAT1 Suicide: association with GCTTCTGTCTAAAATGTCAGGACTTAGGAG[A/C]GCTTGTTATACATTTCCTGGTAACAGTAAA 16389195 ############################################################## chrX:20283250-20285250 RPS6KA3 1 chrX 20283638 20283826 10010 1 chrX 20284681 20284682 CD060654 - 5 DM NULL RPS6KA3 Coffin-Lowry syndrome GCTGTGGAGAGCCCGTCCGACAGCGCTGAG[G/-]TGAGTGCAGCAGGGCGGCCGGGGCCGGCGC 16879200 ############################################################## chrX:153771355-153776062 IKBKG 1 chrX 153771411 153771603 11111 1 chrX 153775961 153775962 CS103897 + 2 DM NULL IKBKG Immune deficiency CTTCTCACGTCTGACGGACTCTGCTGACAG[G/T]tgtggtccttttccccaaagacagggttcc 20542322 chrX 153774364 153774365 CM094326 - 1 DM? NULL G6PD Glucose-6-phosphate dehydrogenase deficiency gcctttcttccaccagacagcgtcATGGCA[G/A]AGCAGGTGGCCCTGAGCCGGACCCAGGTGT 19589177 chrX 153774346 153774347 CM109818 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency agcgtcATGGCAGAGCAGGTGGCCCTGAGC[C/T]GGACCCAGGTGTGCGGGATCCTGCGGGAAG 21446359 chrX 153774337 153774338 CM973231 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency GCAGAGCAGGTGGCCCTGAGCCGGACCCAG[G/T]TGTGCGGGATCCTGCGGGAAGAGCTTTTCC 10627140 chrX 153774331 153774332 CM980788 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CAGGTGGCCCTGAGCCGGACCCAGGTGTGC[G/A]GGATCCTGCGGGAAGAGCTTTTCCAGGGCG 9526168 chrX 153774277 153774278 CM080378 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CAGGGCGATGCCTTCCATCAGTCGGATACA[C/G]ACATATTCATCATCATGGGTGCATCGgtga 18046504 chrX 153774276 153774277 CM910158 - 1 DM rs137852340 G6PD Glucose-6-phosphate dehydrogenase deficiency AGGGCGATGCCTTCCATCAGTCGGATACAC[A/G]CATATTCATCATCATGGGTGCATCGgtgag 1945893 chrX 153774272 153774273 CM950495 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CGATGCCTTCCATCAGTCGGATACACACAT[A/G]TTCATCATCATGGGTGCATCGgtgagtatc 7726184 chrX 153774261 153774263 CD930987 - 5 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency CCATCAGTCGGATACACACATATTCATCAT[CAT/-]GGGTGCATCGGTGAGTATCTCCCAGGCCCC 2005960 chrX 153774261 153774262 CM973138 - 1 DM NULL G6PD Glucose-6-phosphate dehydrogenase deficiency ATCAGTCGGATACACACATATTCATCATCA[T/C]GGGTGCATCGgtgagtatctcccaggcccc 9410474 ############################################################## chr9:97400572-97403031 FBP1 1 chr9 97400650 97400872 10000 1 chr9 97401558 97401559 CD991711 - 5 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency CTGACCAGGCGCCCTTCGACACGGACGTCA[A/-]CACCCTGACCCGCTTCGTCATGGAGGAGGG 10234608 chr9 97401505 97401506 CM970523 - 1 DM rs121918190 FBP1 Fructose-1:6-bisphosphatase deficiency GAGGAGGGCAGGAAGGCCCGCGGCACGGGC[G/T]AGTTGACCCAGCTGCTCAACTCGCTCTGCA 9382095 chr9 97401473 97401474 CI096650 - 6 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency GTTGACCCAGCTGCTCAACTCGCTCTGCAC[-/CTGCAC]AGCAGTCAAAGCCATCTCTTCGGCGGTGCG 19259699 ############################################################## chr9:97400572-97402423 FBP1 1 chr9 97400650 97400872 10000 1 chr9 97401558 97401559 CD991711 - 5 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency CTGACCAGGCGCCCTTCGACACGGACGTCA[A/-]CACCCTGACCCGCTTCGTCATGGAGGAGGG 10234608 chr9 97401505 97401506 CM970523 - 1 DM rs121918190 FBP1 Fructose-1:6-bisphosphatase deficiency GAGGAGGGCAGGAAGGCCCGCGGCACGGGC[G/T]AGTTGACCCAGCTGCTCAACTCGCTCTGCA 9382095 chr9 97401473 97401474 CI096650 - 6 DM NULL FBP1 Fructose-1:6-bisphosphatase deficiency GTTGACCCAGCTGCTCAACTCGCTCTGCAC[-/CTGCAC]AGCAGTCAAAGCCATCTCTTCGGCGGTGCG 19259699 ############################################################## chr9:32524201-32526822 DDX58 1 chr9 32523962 32524417 11010 3 chr9 32526146 32526147 CM091752 - 1 DFP rs10813831 DDX58 Reduced activity: association with gcagaggccggcATGACCACCGAGCAGCGA[C/T]GCAGCCTGCAAGCCTTCCAGGATTATATCC 19324880 ############################################################## chr9:140094873-140095845 TPRN 1 chr9 140565600 140565610 10000 2 chr9 140094929 140094939 CD101480 - 5 DM NULL TPRN Deafness: nonsyndromic GGCCGAGCGGCGGCGCGGCGGGGGCGCGGC[GGGGGCGCGGC/-]TGCTGGAGCGGTACCGCCGCGTGCCTGGCG 20170898 chr9 140094926 140094927 CI101518 - 6 DM NULL TPRN Deafness: nonsyndromic CGCGGCGGGGGCGCGGCGGGGGCGCGGCTG[-/GGGCGCGGCTG]CTGGAGCGGTACCGCCGCGTGCCTGGCGTG 20170899 ############################################################## chr9:140091146-140095663 TPRN 1 chr9 140091246 140091459 10000 1 chr9 140094929 140094939 CD101480 - 5 DM NULL TPRN Deafness: nonsyndromic GGCCGAGCGGCGGCGCGGCGGGGGCGCGGC[GGGGGCGCGGC/-]TGCTGGAGCGGTACCGCCGCGTGCCTGGCG 20170898 chr9 140094926 140094927 CI101518 - 6 DM NULL TPRN Deafness: nonsyndromic CGCGGCGGGGGCGCGGCGGGGGCGCGGCTG[-/GGGCGCGGCTG]CTGGAGCGGTACCGCCGCGTGCCTGGCGTG 20170899 chr9 140093925 140093926 CM101517 - 1 DM rs267607135 TPRN Deafness: nonsyndromic CACCGCCCTCGCTGACCGGGCTATTAGGTG[G/A]CAGAGGCCGTCCTCACCGCCCCCCTTCCTG 20170899 chr9 140093737 140093738 CD101519 - 5 DM NULL TPRN Deafness: nonsyndromic CCCCCCAAGCAGCCAAACTACCCTACCTCC[C/-]GCACCCTGCCAGGCCTCTGCACCCTGCCAG 20170899 chr9 140093634 140093635 CD101479 - 5 DM NULL TPRN Deafness: nonsyndromic CTTCACAGTGGTGCCCAAGAGGAAGCCAGG[G/-]ACTCTGCAGGACCAGCACTTCAGTCAGGCC 20170898 ############################################################## chr9:130547313-130549124 CDK9 1 chr9 130717933 130718209 10000 2 chr9 130548229 130548230 CR099187 + 3 DM NULL MIR2861 Osteoporosis: primary CGCCTCTGCAGCTCCGGCTCCCCCTGGCCT[C/G]TCGGGAACTACAAGTCCCAGGGGGCCTGGC 19920351 ############################################################## chr8:53625726-53627526 RB1CC1 1 chr8 53625713 53625966 11000 2 chr8 53627494 53627495 CR1110495 - 3 FP rs36124850 RB1CC1 Increased promoter activity CCCTTGCAGAGTTAACAGGGGGACGCTTGC[C/T]AGCTGCGTGCAGTCCCGGCGGTCCGGATAT 22049074 ############################################################## chr8:26718506-26723422 ADRA1A 1 chr8 26718526 26718688 10000 1 chr8 26721990 26721991 CM057863 - 1 FP rs56233953 ADRA1A Decreased binding affinity TCATATCCATTGGACCCCTGTTCGGCTGGA[G/A]GCAGCCGGCCCCCGAGGACGAGACCATCTG 15900517 chr8 26721888 26721889 CM057865 - 1 FP rs2229125 ADRA1A Altered antagonist binding TGGGCTCCTTCTACCTGCCTCTGGCCATCA[T/G]CCTGGTCATGTACTGCCGCGTCTACGTGGT 15900517 chr8 26721748 26721749 CM057866 - 1 FP rs3730287 ADRA1A Increased receptor signalling CATCGGAAAAACGCCCCGGCAGGAGGCAGC[G/A]GGATGGCCAGCGCCAAGACCAAGACGCACT 15900517 ############################################################## chr8:145149393-145151175 CYC1 1 chr8 144976948 144976982 10000 1 chr8 145150894 145150895 CM137216 + 1 DM NULL CYC1 Hyperglycaemia: insulin-responsive CCTGGAGCTGCACCCCCCCAGCTATCCGTG[G/T]TCTCACCGTGGCCTCCTCTCTTCCTTGGAC 23910460 ############################################################## chr8:11560574-11562217 GATA4 1 chr8 11560495 11560847 11101 3 chr8 11561369 11561370 CR123496 + 3 DM NULL GATA4 Ventricular septal defect TCACCTTCTTCTCTACTGGCCCCGCCCCTC[G/T]CCCGCCGCTGCGGGATGAGGACCACAGGAA 22500510 chr8 11561282 11561283 CR123495 + 3 DM NULL GATA4 Ventricular septal defect CACTACCCCTGCCCAGGAACTAGCATCCAG[C/T]CGGGCACCCCGGGTGACCCAGTGCCCCACA 22500510 chr8 11560864 11560865 CR123494 + 3 DM NULL GATA4 Ventricular septal defect TCTCCGGCTCGCAGCCCCGCTGCGCTGGGG[C/A]CTCCAGGCTCTGACGCCGACTCCCAACTCA 22500510 chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 ############################################################## chr7:91762816-91764663 CYP51A1 1 chr7 92439075 92439308 11010 3 chr7 91763666 91763667 CM1312804 - 1 DM? rs312262909 CYP51A1 Preterm birth gtgtttccgacggagtgaATGGCGGCGGCG[G/A]CTGGGATGCTGCTGCTGGGCTTGCTGCAGG 24358204 ############################################################## chr7:6413769-6414692 RAC1 1 chr7 6425200 6425294 10000 1 chr7 6414153 6414154 CR113114 + 3 FP NULL RAC1 Reduced promoter activity GAGGGGAGGCCGGATGTGAGTGGAGCGGCC[A/T]TTTCCTGTTTCTCTGCAGTTTTCCTCAGCT 21372752 chr7 6414151 6414152 CR113110 + 3 FP NULL RAC1 Reduced promoter activity GGGAGGGGAGGCCGGATGTGAGTGGAGCGG[C/G]CATTTCCTGTTTCTCTGCAGTTTTCCTCAG 21372752 chr7 6414078 6414079 CR113096 + 3 DFP rs34932801 RAC1 Azathioprine haematotoxicity in TPMT carriers: association with GAGCGGCGCGGGCGGGAGCGGCGCGGGCGG[G/C]AGCGGCCCCGCCCGGAACCTGGGAGCGGCG 21372752 ############################################################## chr7:22762844-22767266 IL6 1 chr7 22763410 22763543 11000 1 chr7 22767138 22767139 CI1313107 + 6 DM NULL IL6 Cerebral palsy GCCTGCTGCCTTCCCTGCCCCAGTACCCCC[-/C]AGGAGAAGATTCCAAAGATGTAGCCGCCCC 24314052 chr7 22766645 22766646 CR983402 + 3 DFP rs1800795 IL6 Juvenile arthritis: lower risk: association GCTGCACTTTTCCCCCTAGTTGTGTCTTGC[G/C]ATGCTAAAGGACGTCACATTGCACAATCTT 9769329 chr7 22766542 22766543 CR109943 + 3 DFP NULL IL6 Systemic lupus erythematosus: association with CTTTGTCAAGACATGCCAAAGTGCTGAGTC[A/C]CTAATAAAAGAAAAAAAGAAAGTAAAGGAA 20843912 chr7 22766246 22766247 CR030325 + 3 DFP rs1800796 IL6 Impaired cognitive development: association with TGAGGATGGCCAGGCAGTTCTACAACAGCC[G/C]CTCACAGGGAGAGCCAGAACACAGAAGAAC 15985687 chr7 22766221 22766222 CR016149 + 3 FP rs1800797 IL6 Altered transcriptional activity CGCCTTGAAGTAACTGCACGAAATTTGAGG[A/G]TGGCCAGGCAGTTCTACAACAGCCGCTCAC 11704800 ############################################################## chr7:124402770-124406181 GPR37 1 chr7 124402721 124403153 10001 2 chr7 124404091 124404093 CD1211738 - 5 DM? NULL GPR37 Autism spectrum disorder TGGCCTTCTGGGACTTTCTCATCATCTTCT[TCT/-]GCCTTCCGCTGGTCATCTTCCACGAGCTGA 23251443 ############################################################## chr6:7541252-7543625 DSP 1 chr6 8085195 8085599 10000 3 chr6 7542299 7542300 CM136692 + 1 DM NULL DSP Arrhythmogenic right ventricular dysplasia/cardiomyopathy TACTATTCTCGGCGCGGCGTGATCACCGAC[C/T]AGAACTCGGACGGCTACTGgtgggtacctg 23810894 chr6 7542236 7542237 CM063961 + 1 DM rs121912998 DSP Cardiomyopathy: arrhythmogenic right ventricular GCCGAGTCTGGCCCGGACCTGCGCTACGAG[G/A]TGACCAGCGGCGGCGGGGGCACCAGCAGGA 16917092 ############################################################## chr6:53409426-53413267 GCLC 1 chr6 53412515 53413258 11010 2 chr6 53410037 53410038 CR036047 - 3 DFP rs17883901 GCLC Myocardial infarction: increased risk: association CCCCTTCTCGCGAGCTGCTCCCCTCAACTG[C/T]GACCCAATCACCCTTGCACACGCCTCCTGA 12598062 ############################################################## chr6:53408844-53410157 GCLC 1 chr6 52455047 52455484 10000 2 chr6 53410037 53410038 CR036047 - 3 DFP rs17883901 GCLC Myocardial infarction: increased risk: association CCCCTTCTCGCGAGCTGCTCCCCTCAACTG[C/T]GACCCAATCACCCTTGCACACGCCTCCTGA 12598062 ############################################################## chr6:42689857-42694736 PRPH2 1 chr6 42694390 42694553 10000 1 chr6 42690071 42690072 CM971286 - 1 DM rs121918565 PRPH2 Macular dystrophy ggaagcaacccggactacacttggcaagcA[T/C]GGCGCTACTGAAAGTCAAGTTTGACCAGAA 9338584 chr6 42690036 42690037 CM951112 - 1 DM? rs61754402 PRPH2 Retinitis pigmentosa CTACTGAAAGTCAAGTTTGACCAGAAGAAG[C/T]GGGTCAAGTTGGCCCAAGGGCTCTGGCTCA ABST chr6 42690010 42690011 CM074985 - 1 DM NULL PRPH2 Pattern dystrophy GAAGCGGGTCAAGTTGGCCCAAGGGCTCTG[G/A]CTCATGAACTGGTTCTCCGTGTTGGCTGGC 17504850 chr6 42689999 42690000 CD931049 - 5 DM rs61755765 PRPH2 Retinitis punctata albescens AAGTTGGCCCAAGGGCTCTGGCTCATGAAC[TG/-]GTTCTCCGTGTTGGCTGGCATCATCATCTT 8485575 chr6 42689998 42689999 CM127070 - 1 DM rs146686238 PRPH2 Stargardt disease GTTGGCCCAAGGGCTCTGGCTCATGAACTG[G/C]TTCTCCGTGTTGGCTGGCATCATCATCTTC 22863181 chr6 42689993 42689994 CM973129 - 1 DM rs61755766 PRPH2 Cone dystrophy CCCAAGGGCTCTGGCTCATGAACTGGTTCT[C/T]CGTGTTGGCTGGCATCATCATCTTCAGCCT 9052636 chr6 42689979 42689980 CM951113 - 1 DM rs61755767 PRPH2 Macular dystrophy CTCATGAACTGGTTCTCCGTGTTGGCTGGC[A/G]TCATCATCTTCAGCCTAGGACTGTTCCTGA ABST chr6 42689976 42689977 CI962664 - 6 DM rs61755768 PRPH2 Retinitis pigmentosa ATGAACTGGTTCTCCGTGTTGGCTGGCATC[-/C]ATCATCTTCAGCCTAGGACTGTTCCTGAAG 8675410 chr6 42689960 42689961 CD030391 - 5 DM rs61755769 PRPH2 Foveamacular dystrophy: adult onset TGTTGGCTGGCATCATCATCTTCAGCCTAG[G/-]ACTGTTCCTGAAGATTGAACTCCGAAAGAG 12566026 chr6 42689957 42689958 CM1310198 - 1 DM NULL PRPH2 Retinitis pigmentosa TGGCTGGCATCATCATCTTCAGCCTAGGAC[T/C]GTTCCTGAAGATTGAACTCCGAAAGAGGAG 23484092 chr6 42689940 42689941 CM951114 - 1 DM rs61755770 PRPH2 Retinitis pigmentosa TTCAGCCTAGGACTGTTCCTGAAGATTGAA[C/T]TCCGAAAGAGGAGCGATGTGATGAATAATT ABST chr6 42689937 42689938 CM930635 - 1 DM rs61755771 PRPH2 Retinitis pigmentosa AGCCTAGGACTGTTCCTGAAGATTGAACTC[C/T]GAAAGAGGAGCGATGTGATGAATAATTCTG 8111389 chr6 42689910 42689911 CD075522 - 5 DM NULL PRPH2 Pattern dystrophy CTCCGAAAGAGGAGCGATGTGATGAATAAT[T/-]CTGAGAGCCATTTTGTGCCCAACTCATTGA 17504850 chr6 42689872 42689874 CD941787 - 5 DM rs61755773 PRPH2 Pattern/cone-rod dystrophy AGCCATTTTGTGCCCAACTCATTGATAGGG[ATG/-]GGGGTGCTATCCTGTGTCTTCAACTCGCTG ABST chr6 42689871 42689875 CX962665 - 4 DM NULL PRPH2 Retinitis pigmentosa GAGCCATTTTGTGCCCAACTCATTGATAGG[GATGG/AAGACACA]GGGTGCTATCCTGTGTCTTCAACTCGCTGG 8675410 chr6 42689871 42689872 CM951115 - 1 DM NULL PRPH2 Pattern/cone-rod dystrophy CATTTTGTGCCCAACTCATTGATAGGGATG[G/C]GGGTGCTATCCTGTGTCTTCAACTCGCTGG ABST ############################################################## chr6:18122759-18123256 NHLRC1 1 chr6 18503881 18504033 11000 1 chr6 18122774 18122775 CM082967 - 1 DM NULL NHLRC1 Myoclonic epilepsy of Lafora CTGCATGAGCTCATGCGCGAGGCGGAGATC[A/C]GCCTGCTCGAGTGCAAGGTGTGCTTTGAGA 18311786 chr6 18122762 18122763 CM033787 - 1 DM rs28940575 NHLRC1 Myoclonic epilepsy of Lafora ATGCGCGAGGCGGAGATCAGCCTGCTCGAG[T/A]GCAAGGTGTGCTTTGAGAAGTTTGGCCACC 12958597 chr6 18122760 18122761 CM050720 - 1 DM NULL NHLRC1 Myoclonic epilepsy of Lafora GCGCGAGGCGGAGATCAGCCTGCTCGAGTG[C/A]AAGGTGTGCTTTGAGAAGTTTGGCCACCGG 15781812 ############################################################## chr6:157098563-157102025 ARID1B 1 chr6 157101266 157101757 00000 2 chr6 157100606 157100607 CS1310774 + 2 DM NULL ARID1B Coffin-Siris syndrome ACCCCCGGACCGACCATGGGCAGATCCCAG[G/A]taaccctcgcgccagccgggcctgcttccg 23929686 chr6 157100603 157100604 CI1311925 + 6 DM NULL ARID1B Coffin-Siris syndrome GCACCCCCGGACCGACCATGGGCAGATCCC[-/C]AGGTAACCCTCGCGCCAGCCGGGCCTGCTT 23906836 chr6 157100409 157100410 CD1310780 + 5 DM NULL ARID1B Coffin-Siris syndrome AGTACAGCAGCCCCAGCGCGCCGCCGCCGC[C/-]GCCGTCGCAGCCCCAGTCCCAGGCGGCGGC 23929686 chr6 157100322 157100323 CI1310790 + 6 DM NULL ARID1B Coffin-Siris syndrome GCACCCGTCGGGGGCCACCCCGACCCTCAA[-/A]TCAGCTGCTCACCTCGCCCAGCCCCATGAT 23929686 chr6 157100298 157100299 CI1310789 + 6 DM NULL ARID1B Coffin-Siris syndrome CCAGCGCTTCGCCGGCCAGAACCAGCACCC[-/C]GTCGGGGGCCACCCCGACCCTCAATCAGCT 23929686 chr6 157100285 157100286 CI1310788 + 6 DM NULL ARID1B Coffin-Siris syndrome CGGCGGGGGGCTTCCAGCGCTTCGCCGGCC[-/C]AGAACCAGCACCCGTCGGGGGCCACCCCGA 23929686 chr6 157100177 157100178 CI121900 + 6 DM NULL ARID1B Intellectual disability CCGCGGGGTACGGGGTGCTGAGCTCCCCCC[-/C]GGCAGCAGGGCGGCGGCATGATGATGGGCC 22405089 ############################################################## chr6:139694257-139697333 CITED2 1 chr6 139690859 139691000 11111 3 chr6 139694963 139694965 CD138404 - 5 DM NULL CITED2 Low HDL cholesterol CATGGGGCAGTTCCCGAGCCCCCATCACCA[CCA/-]GCAGCAGCAGCCCCAGCACGCCTTCAACGC 23685560 chr6 139694585 139694586 CM129917 - 1 DM? NULL CITED2 Congenital heart defects GCAACCCCAAGCACAGCGGCGGCAGCAGCA[C/A]CCCCGGCGGCTCGGGCGGCAGCAGCACCCC 23082118 chr6 139694532 139694533 CM108233 - 1 DM NULL CITED2 Congenital heart defects AGCACCCCCGGCGGCTCTGGCAGCAGCTCG[G/A]GCGGCGGCGCGGGCAGCAGCAACAGCGGCG 20654020 chr6 139694508 139694509 CM108234 - 1 DM NULL CITED2 Congenital heart defects AGCTCGGGCGGCGGCGCGGGCAGCAGCAAC[A/G]GCGGCGGCGGCAGCGGCAGCGGCAACATGC 20654020 chr6 139694503 139694508 CD108235 - 5 DM NULL CITED2 Congenital heart defects AGCTCGGGCGGCGGCGCGGGCAGCAGCAAC[AGCGGC/-]GGCGGCAGCGGCAGCGGCAACATGCCCGCC 20654020 chr6 139694484 139694489 CD056144 - 5 DM NULL CITED2 Congenital heart defects GCAGCAGCAACAGCGGCGGCGGCAGCGGCA[GCGGCA/-]ACATGCCCGCCTCCGTGGCCCACGTCCCCG 16287139 chr6 139694478 139694479 CM125585 - 1 DM? rs146180399 CITED2 Premature ovarian failure AGCGGCGGCGGCAGCGGCAGCGGCAACATG[C/A]CCGCCTCCGTGGCCCACGTCCCCGCTGCAA 22709740 ############################################################## chr6:136172333-136174823 PDE7B 1 chr6 136174468 136174669 10000 1 chr6 136172487 136172488 CR1110846 + 3 FP rs77932410 PDE7B Reduced promoter activity ATTTAGCTCAGGGTTTTATATTTAATTTTT[G/A]TTTTGTTTTGCTTTTGTTTTTATACACCTC 21796143 ############################################################## chr6:132271800-132273020 CTGF 1 chr6 132302133 132302353 11000 4 chr6 132272535 132272536 CR103219 - 3 DFP NULL CTGF Nephropathy: in type 1 diabetes: association with GAGCCGCGGCCGCCCGGAGCGTATAAAAGC[C/G]TCGGGCCGCCCGCCCCAAACTCACACAACA 20522428 ############################################################## chr5:42808267-42808499 SEPP1 1 chr5 42878173 42878287 11000 1 chr5 42808371 42808372 CM140142 - 1 DP rs72554691 SEPP1 IL6 levels: association with ACAGAGAGCCAGGACCAAAGCTCCTTATGT[A/G]AGCAACCCCCAGCCTGGAGCATAAGAGATC 24161883 ############################################################## chr5:179247331-179248960 SQSTM1 1 chr5 179182400 179182499 11001 1 chr5 179248093 179248094 CM134137 + 1 DM NULL SQSTM1 Amyotrophic lateral sclerosis CCCTGCGAGCGGCTGCTGAGCCGGGTGGCC[G/A]CCCTGTTCCCCGCGCTGCGGCCTGGCGGCT 23303844 chr5 179248034 179248035 CM119334 + 1 DM? rs200396166 SQSTM1 Amyotrophic lateral sclerosis TCAGCTTCTGCTGCAGCCCCGAGCCTGAGG[C/T]GGAAGCCGAGGCTGCGGCGGGTCCGGGACC 22084127 ############################################################## chr5:149109314-149111346 PPARGC1B 1 chr5 149111136 149111755 11111 3 chr5 149109479 149109480 CR119830 + 3 DFP rs62382271 PPARGC1B Airway hyperreactivity: in asthma: association with CCGGCCTTCGAACGAGGTCCTATTCCTTCT[C/T]GAGCCTCAGTTTCCCCAGCTGTGCAGAAGA 21692888 ############################################################## chr5:131629644-131634366 SLC22A4 1 chr5 131634150 131634304 11000 1 chr5 131630557 131630558 CM138533 + 1 FP NULL SLC22A4 Reduced transport activity ACGGCCGCGAGGTGCCCCACAGCTGCAGCC[G/C]CTACCGGCTCGCCACCATCGCCAACTTCTC 23663222 chr5 131630497 131630498 CM138532 + 1 FP NULL SLC22A4 Reduced transport activity CGGACGCCGCGAACCTGAGCAGCGCCTGGC[G/A]CAACAACAGTGTCCCGCTGCGGCTGCGGGA 23663222 ############################################################## chr5:131629201-131630645 SLC22A4 1 chr5 131629444 131629905 11111 2 chr5 131630557 131630558 CM138533 + 1 FP NULL SLC22A4 Reduced transport activity ACGGCCGCGAGGTGCCCCACAGCTGCAGCC[G/C]CTACCGGCTCGCCACCATCGCCAACTTCTC 23663222 chr5 131630497 131630498 CM138532 + 1 FP NULL SLC22A4 Reduced transport activity CGGACGCCGCGAACCTGAGCAGCGCCTGGC[G/A]CAACAACAGTGTCCCGCTGCGGCTGCGGGA 23663222 ############################################################## chr4:74301712-74301960 AFP 1 chr4 74209274 74209480 11000 2 chr4 74301881 74301882 CR042571 + 3 DM NULL AFP Hereditary persistence of alpha-fetoprotein TAAAGTAACAGATATACCAACAAAAGGTTA[C/A]TAGTTAACAGGCATTGCCTGAAAAGAGTAT 14699509 chr4 74301817 74301818 CR930871 + 3 DM NULL AFP Hereditary persistence of alpha-fetoprotein TACAAATAACCGCTATGCTGTTAATTATTG[G/A]CAAATGTCCCATTTTCAACCTAAGGAAATA 7684942 ############################################################## chr4:155533401-155536802 FGG 1 chr4 155536658 155536821 11000 1 chr4 155533679 155533680 CS002666 - 2 DM NULL FGG Afibrinogenaemia TATTTCTCTCTTCAACATGTGTAGCAgtaa[G/A]tgtgctcttcacaaaacgttgtttaaaatg 11001902 chr4 155533568 155533569 CD011167 - 5 DM NULL FGG Afibrinogenaemia TTCTCTTTTAGTATGTTGCTACCAGAGACA[A/-]CTGCTGCATCTTAGATGAAAGATTCGTAAG 11354637 chr4 155533542 155533543 CS002448 - 2 DM NULL FGG Hypofibrinogenaemia GACAACTGCTGCATCTTAGATGAAAGATTC[G/A]taagtagtttttatgtttctccctttgtgt 11019970 ############################################################## chr4:155511659-155512194 FGA 1 chr4 155538953 155539400 11000 4 chr4 155511897 155511898 CR066662 - 3 DFP rs2070011 FGA Venous thromboembolism: susceptibility: association with GATTTAAATAGGATGGGAACTAGGAGTGGC[G/A]GCAATCCTTTCTTTCAGCTGGAGTGCTCCT 16362348 chr4 155511839 155511840 CM1212650 - 1 DM NULL FGA Afibrinogenaemia cctcaggagccagccccacccttagaaaag[A/T]TGTTTTCCATGAGGATCGTCTGCCTGGTCC 22732251 chr4 155511835 155511836 CI001937 - 6 DM NULL FGA Afibrinogenaemia AGGAGCCAGCCCCACCCTTAGAAAAGATGT[-/C]TTTCCATGAGGATCGTCTGCCTGGTCCTAA 10891444 chr4 155511785 155511786 CS055585 - 2 DM rs111585272 FGA Afibrinogenaemia CTGGTCCTAAGTGTGGTGGGCACAGCATGG[G/A]tatggcccttttcattttttcttcttgctt 16241964 chr4 155511783 155511784 CS124804 - 2 DM NULL FGA Afibrinogenaemia GGTCCTAAGTGTGGTGGGCACAGCATGGgt[A/C]tggcccttttcattttttcttcttgctttc 22639050 chr4 155511783 155511784 CS001834 - 2 DM NULL FGA Afibrinogenaemia GGTCCTAAGTGTGGTGGGCACAGCATGGgt[A/G]tggcccttttcattttttcttcttgctttc 10891444 ############################################################## chr4:100272506-100274417 ADH1C 1 chr4 100272728 100272927 10000 2 chr4 100274286 100274287 CR135035 - 3 DP rs1789924 ADH1C Gastric adenocarcinoma: increased risk TTGTTTATCCAATTTCCCTACTCCTCCTTC[G/A]TAACTGCACCATGTGGATTCAAAATTGCAG 23430453 chr4 100274157 100274158 CR096499 - 3 DFP rs4147541 ADH1C Reduced alcohol metabolism: association with CCTGTGGGTTTGAGAGAAGAGAAGCAGGAA[G/C]TTGAGAGAGGAGGAAGAGAGAAAGTAATTA 19618839 ############################################################## chr3:186329814-186330094 AHSG 1 chr3 185514440 185514686 10000 2 chr3 186330088 186330089 CR117233 + 3 DFP rs2248690 AHSG SarS-CoV infection: protection: association TGTCAGACTCGAACCCAGAGCTGTGTCAAA[T/A]GAGTCAGGACTCCCCTCTGCTGCCCTTGTG 21904596 ############################################################## chr3:127539439-127542551 MGLL 1 chr3 127539167 127539530 10000 3 chr3 127540645 127540646 CM109135 - 1 DM rs201175620 MGLL Obesity AAGACCCTTCCAGCATGCCAGAGGAAAGTT[C/T]CCCCAGGCGGACCCCGCAGAGCATTCCCTA 21118518 ############################################################## chr3:127539439-127542201 MGLL 1 chr3 127539167 127539530 10000 3 chr3 127540645 127540646 CM109135 - 1 DM rs201175620 MGLL Obesity AAGACCCTTCCAGCATGCCAGAGGAAAGTT[C/T]CCCCAGGCGGACCCCGCAGAGCATTCCCTA 21118518 ############################################################## chr3:12392500-12395671 PPARG 1 chr3 12395401 12395636 11111 2 chr3 12393125 12393126 CM981614 + 1 DFP rs1801282 PPARG Obesity: association with GGTGAAACTCTGGGAGATTCTCCTATTGAC[C/G]CAGAAAGCGATTCCTTCACTGATACACTGT 9792554 ############################################################## chr3:105085056-105088593 ALCAM 1 chr3 105087970 105088012 11001 2 chr3 105086085 105086086 CR1111108 + 3 DFP rs6437585 ALCAM Breast cancer: increased risk: association with TGGGGGCATTGCGTGGTGGAAAGTTGCGTG[C/T]GGCAGAGAACCGAAGGTGCAGCGCCACAGC 21293922 ############################################################## chr3:105085056-105088244 ALCAM 1 chr3 105087616 105088012 11001 2 chr3 105086085 105086086 CR1111108 + 3 DFP rs6437585 ALCAM Breast cancer: increased risk: association with TGGGGGCATTGCGTGGTGGAAAGTTGCGTG[C/T]GGCAGAGAACCGAAGGTGCAGCGCCACAGC 21293922 ############################################################## chr3:10183000-10184048 VHL 1 chr3 9444599 9444798 11111 2 chr3 10183878 10183879 CS031467 + 2 DM NULL VHL Von Hippel-Lindau syndrome GCCGCCGCATCCACAGCTACCGAGgtacgg[G/A]cccggcgcttaggcccgacccagcagggac 12624160 chr3 10183876 10183877 CS961703 + 2 DM rs61758376 VHL Von Hippel-Lindau syndrome GGGCCGCCGCATCCACAGCTACCGAGgtac[G/C]ggcccggcgcttaggcccgacccagcaggg 8956040 chr3 10183873 10183877 CD983001 + 5 DM NULL VHL Von Hippel-Lindau syndrome CACGGGCCGCCGCATCCACAGCTACCGAGG[TACGG/-]GCCCGGCGCTTAGGCCCGACCCAGCAGGGA 9829912 chr3 10183872 10183873 CS982396 + 2 DM NULL VHL Von Hippel-Lindau syndrome GCACGGGCCGCCGCATCCACAGCTACCGAG[G/A]tacgggcccggcgcttaggcccgacccagc 9829912 chr3 10183872 10183873 CS044968 + 2 DM NULL VHL Von Hippel-Lindau syndrome GCACGGGCCGCCGCATCCACAGCTACCGAG[G/T]tacgggcccggcgcttaggcccgacccagc 15467305 chr3 10183871 10183872 CM951284 + 1 DM NULL VHL Von Hippel-Lindau syndrome GGCACGGGCCGCCGCATCCACAGCTACCGA[G/C]gtacgggcccggcgcttaggcccgacccag 7728151 chr3 10183871 10183872 CM941372 + 1 DM NULL VHL Von Hippel-Lindau syndrome GGCACGGGCCGCCGCATCCACAGCTACCGA[G/T]gtacgggcccggcgcttaggcccgacccag 7987306 chr3 10183871 10183872 CM044739 + 1 DM NULL VHL Von Hippel-Lindau syndrome GGCACGGGCCGCCGCATCCACAGCTACCGA[G/A]gtacgggcccggcgcttaggcccgacccag 15002726 chr3 10183868 10183869 CM941371 + 1 DM rs5030810 VHL Von Hippel-Lindau syndrome CCTGGCACGGGCCGCCGCATCCACAGCTAC[C/T]GAGgtacgggcccggcgcttaggcccgacc 7987306 chr3 10183868 10183869 CD071416 + 5 DM NULL VHL Von Hippel-Lindau syndrome CCTGGCACGGGCCGCCGCATCCACAGCTAC[C/-]GAGGTACGGGCCCGGCGCTTAGGCCCGACC 17024664 chr3 10183867 10183868 CM951282 + 1 DM NULL VHL Von Hippel-Lindau syndrome GCCTGGCACGGGCCGCCGCATCCACAGCTA[C/A]CGAGgtacgggcccggcgcttaggcccgac 7728151 chr3 10183866 10183867 HM080105 + 1 DM NULL VHL Von Hippel-Lindau syndrome CGCCTGGCACGGGCCGCCGCATCCACAGCT[A/G]CCGAGgtacgggcccggcgcttaggcccga HGOL chr3 10183865 10183866 CM992977 + 1 DM rs104893824 VHL Von Hippel-Lindau syndrome CCGCCTGGCACGGGCCGCCGCATCCACAGC[T/A]ACCGAGgtacgggcccggcgcttaggcccg 10533030 chr3 10183865 10183866 CM951283 + 1 DM rs104893824 VHL Von Hippel-Lindau syndrome CCGCCTGGCACGGGCCGCCGCATCCACAGC[T/C]ACCGAGgtacgggcccggcgcttaggcccg 7728151 chr3 10183864 10183865 CM951281 + 1 DM NULL VHL Von Hippel-Lindau syndrome GCCGCCTGGCACGGGCCGCCGCATCCACAG[C/G]TACCGAGgtacgggcccggcgcttaggccc 7728151 chr3 10183863 10183864 HM971583 + 1 DM NULL VHL Pancreatic cancer TGCCGCCTGGCACGGGCCGCCGCATCCACA[G/T]CTACCGAGgtacgggcccggcgcttaggcc HGOL chr3 10183863 10183864 CM951280 + 1 DM NULL VHL Von Hippel-Lindau syndrome TGCCGCCTGGCACGGGCCGCCGCATCCACA[G/A]CTACCGAGgtacgggcccggcgcttaggcc 7728151 chr3 10183862 10183863 CM023997 + 1 DM NULL VHL Von Hippel-Lindau syndrome CTGCCGCCTGGCACGGGCCGCCGCATCCAC[A/T]GCTACCGAGgtacgggcccggcgcttaggc 12202531 chr3 10183862 10183863 CD951874 + 5 DM NULL VHL Von Hippel-Lindau syndrome CTGCCGCCTGGCACGGGCCGCCGCATCCAC[A/-]GCTACCGAGGTACGGGCCCGGCGCTTAGGC 7728151 chr3 10183861 10183862 CX984039 + 4 DM NULL VHL Phaeochromocytoma GCTGCCGCCTGGCACGGGCCGCCGCATCCA[CA/TT]GCTACCGAGGTACGGGCCCGGCGCTTAGGC 9829911 chr3 10183857 10183858 CD095048 + 5 DM NULL VHL Von Hippel-Lindau syndrome CAACGCTGCCGCCTGGCACGGGCCGCCGCA[T/-]CCACAGCTACCGAGGTACGGGCCCGGCGCT 19464396 chr3 10183855 10183856 CI011897 + 6 DM NULL VHL Von Hippel-Lindau syndrome CCAACGCTGCCGCCTGGCACGGGCCGCCGC[-/CGC]ATCCACAGCTACCGAGGTACGGGCCCGGCG 11409863 chr3 10183854 10183855 CD056864 + 5 DM rs5030623 VHL Von Hippel-Lindau syndrome & phaeochromocytoma ACCCAACGCTGCCGCCTGGCACGGGCCGCC[GC/-]ATCCACAGCTACCGAGGTACGGGCCCGGCG 16142346 chr3 10183853 10183854 CI024080 + 6 DM NULL VHL Von Hippel-Lindau syndrome ACCCAACGCTGCCGCCTGGCACGGGCCGCC[-/TG]GCATCCACAGCTACCGAGGTACGGGCCCGG 12202531 chr3 10183851 10183852 CM982004 + 1 DM rs193922609 VHL Von Hippel-Lindau syndrome CCTACCCAACGCTGCCGCCTGGCACGGGCC[G/C]CCGCATCCACAGCTACCGAGgtacgggccc 9829911 chr3 10183851 10183852 CM023996 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCTACCCAACGCTGCCGCCTGGCACGGGCC[G/A]CCGCATCCACAGCTACCGAGgtacgggccc 12202531 chr3 10183850 10183851 CM126414 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCCTACCCAACGCTGCCGCCTGGCACGGGC[C/T]GCCGCATCCACAGCTACCGAGgtacgggcc 22799452 chr3 10183850 10183851 CM020979 + 1 DM NULL VHL Phaeochromocytoma CCCTACCCAACGCTGCCGCCTGGCACGGGC[C/G]GCCGCATCCACAGCTACCGAGgtacgggcc 12000816 chr3 10183847 10183848 CI994274 + 6 DM NULL VHL Haemangioblastoma AGCCCTACCCAACGCTGCCGCCTGGCACGG[-/CCG]GCCGCCGCATCCACAGCTACCGAGGTACGG 10567493 chr3 10183845 10183846 CI983253 + 6 DM NULL VHL Von Hippel-Lindau syndrome GCAGCCCTACCCAACGCTGCCGCCTGGCAC[-/AC]GGGCCGCCGCATCCACAGCTACCGAGGTAC 9829912 chr3 10183845 10183846 CI114585 + 6 DM NULL VHL Von Hippel-Lindau syndrome GCAGCCCTACCCAACGCTGCCGCCTGGCAC[-/C]GGGCCGCCGCATCCACAGCTACCGAGGTAC 21463266 chr3 10183844 10183845 CM982003 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCGCAGCCCTACCCAACGCTGCCGCCTGGC[A/C]CGGGCCGCCGCATCCACAGCTACCGAGgta 9829911 chr3 10183842 10183843 CM057218 + 1 DM NULL VHL Polycythaemia AGCCGCAGCCCTACCCAACGCTGCCGCCTG[G/T]CACGGGCCGCCGCATCCACAGCTACCGAGg 15642664 chr3 10183842 10183843 CM023995 + 1 DM NULL VHL Von Hippel-Lindau syndrome AGCCGCAGCCCTACCCAACGCTGCCGCCTG[G/C]CACGGGCCGCCGCATCCACAGCTACCGAGg 12202531 chr3 10183840 10183841 HD971483 + 5 DM NULL VHL Von Hippel-Lindau syndrome CGAGCCGCAGCCCTACCCAACGCTGCCGCC[T/-]GGCACGGGCCGCCGCATCCACAGCTACCGA HGOL chr3 10183840 10183841 CD941808 + 5 DM NULL VHL Von Hippel-Lindau syndrome CGAGCCGCAGCCCTACCCAACGCTGCCGCC[TG/-]GCACGGGCCGCCGCATCCACAGCTACCGAG 7987306 chr3 10183839 10183840 CM087000 + 1 DM NULL VHL Phaeochromocytoma GCGAGCCGCAGCCCTACCCAACGCTGCCGC[C/A]TGGCACGGGCCGCCGCATCCACAGCTACCG 18928468 chr3 10183836 10183837 CD031546 + 5 DM NULL VHL Von Hippel-Lindau syndrome ACGGCGAGCCGCAGCCCTACCCAACGCTGC[C/-]GCCTGGCACGGGCCGCCGCATCCACAGCTA 12624160 chr3 10183833 10183834 CM961421 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCGACGGCGAGCCGCAGCCCTACCCAACGC[T/G]GCCGCCTGGCACGGGCCGCCGCATCCACAG 8956040 chr3 10183832 10183833 CX984038 + 4 DM NULL VHL Von Hippel-Lindau syndrome TTCGACGGCGAGCCGCAGCCCTACCCAACG[CT/GG]GCCGCCTGGCACGGGCCGCCGCATCCACAG 9829911 chr3 10183829 10183830 CI066448 + 6 DM NULL VHL Haemangioblastoma ACTTCGACGGCGAGCCGCAGCCCTACCCAA[-/A]CGCTGCCGCCTGGCACGGGCCGCCGCATCC 16572651 chr3 10183824 10183825 CM004285 + 1 DM NULL VHL Von Hippel-Lindau syndrome GGCTCAACTTCGACGGCGAGCCGCAGCCCT[A/G]CCCAACGCTGCCGCCTGGCACGGGCCGCCG 10761708 chr3 10183823 10183824 CM941370 + 1 DM rs5030809 VHL Von Hippel-Lindau syndrome TGGCTCAACTTCGACGGCGAGCCGCAGCCC[T/C]ACCCAACGCTGCCGCCTGGCACGGGCCGCC 7987306 chr3 10183822 10183823 CD1313528 + 5 DM NULL VHL Von Hippel-Lindau syndrome ATGGCTCAACTTCGACGGCGAGCCGCAGCC[C/-]TACCCAACGCTGCCGCCTGGCACGGGCCGC 24396697 chr3 10183821 10183822 CM042501 + 1 DM NULL VHL Von Hippel-Lindau syndrome TATGGCTCAACTTCGACGGCGAGCCGCAGC[C/T]CTACCCAACGCTGCCGCCTGGCACGGGCCG 15300849 chr3 10183819 10183821 CD951873 + 5 DM NULL VHL Von Hippel-Lindau syndrome CGTATGGCTCAACTTCGACGGCGAGCCGCA[GCC/-]CTACCCAACGCTGCCGCCTGGCACGGGCCG 8634692 chr3 10183818 10183820 CD004316 + 5 DM NULL VHL Von Hippel-Lindau syndrome CCGTATGGCTCAACTTCGACGGCGAGCCGC[AGC/-]CCTACCCAACGCTGCCGCCTGGCACGGGCC 10761708 chr3 10183818 10183819 CM961420 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCGTATGGCTCAACTTCGACGGCGAGCCGC[A/C]GCCCTACCCAACGCTGCCGCCTGGCACGGG 8730290 chr3 10183817 10183818 CM982002 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCCGTATGGCTCAACTTCGACGGCGAGCCG[C/T]AGCCCTACCCAACGCTGCCGCCTGGCACGG 9829911 chr3 10183815 10183816 HD971482 + 5 DM NULL VHL Von Hippel-Lindau syndrome TGCCCGTATGGCTCAACTTCGACGGCGAGC[C/-]GCAGCCCTACCCAACGCTGCCGCCTGGCAC HGOL chr3 10183815 10183816 CM092616 + 1 DM NULL VHL Von Hippel-Lindau syndrome TGCCCGTATGGCTCAACTTCGACGGCGAGC[C/G]GCAGCCCTACCCAACGCTGCCGCCTGGCAC 19258401 chr3 10183811 10183812 CM941369 + 1 DM rs5030829 VHL Von Hippel-Lindau syndrome GTGCTGCCCGTATGGCTCAACTTCGACGGC[G/T]AGCCGCAGCCCTACCCAACGCTGCCGCCTG 7987306 chr3 10183810 10183811 CD003987 + 5 DM NULL VHL Von Hippel-Lindau syndrome CGTGCTGCCCGTATGGCTCAACTTCGACGG[C/-]GAGCCGCAGCCCTACCCAACGCTGCCGCCT 10862095 chr3 10183809 10183810 CM995307 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCGTGCTGCCCGTATGGCTCAACTTCGACG[G/T]CGAGCCGCAGCCCTACCCAACGCTGCCGCC 10095351 chr3 10183809 10183810 CM951279 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCGTGCTGCCCGTATGGCTCAACTTCGACG[G/A]CGAGCCGCAGCCCTACCCAACGCTGCCGCC 7728151 chr3 10183809 10183810 CD941807 + 5 DM NULL VHL Von Hippel-Lindau syndrome TCGTGCTGCCCGTATGGCTCAACTTCGACG[G/-]CGAGCCGCAGCCCTACCCAACGCTGCCGCC 7977367 chr3 10183808 10183809 CM961419 + 1 DM rs5030808 VHL Von Hippel-Lindau syndrome GTCGTGCTGCCCGTATGGCTCAACTTCGAC[G/A]GCGAGCCGCAGCCCTACCCAACGCTGCCGC 8707293 chr3 10183808 10183809 CM020978 + 1 DM NULL VHL Phaeochromocytoma GTCGTGCTGCCCGTATGGCTCAACTTCGAC[G/T]GCGAGCCGCAGCCCTACCCAACGCTGCCGC 12000816 chr3 10183808 10183809 CM011824 + 1 DM rs5030808 VHL Von Hippel-Lindau syndrome GTCGTGCTGCCCGTATGGCTCAACTTCGAC[G/C]GCGAGCCGCAGCCCTACCCAACGCTGCCGC 11409863 chr3 10183806 10183807 CM108039 + 1 DM NULL VHL Von Hippel-Lindau syndrome GCGTCGTGCTGCCCGTATGGCTCAACTTCG[A/G]CGGCGAGCCGCAGCCCTACCCAACGCTGCC 20351605 chr3 10183804 10183805 CM042500 + 1 DM NULL VHL Von Hippel-Lindau syndrome GCGCGTCGTGCTGCCCGTATGGCTCAACTT[C/G]GACGGCGAGCCGCAGCCCTACCCAACGCTG 15300849 chr3 10183803 10183804 CX071476 + 4 DM NULL VHL Von Hippel-Lindau syndrome CGCGCGTCGTGCTGCCCGTATGGCTCAACT[TC/AA]GACGGCGAGCCGCAGCCCTACCCAACGCTG 17024664 chr3 10183800 10183801 CM004284 + 1 DM NULL VHL Von Hippel-Lindau syndrome GTCCGCGCGTCGTGCTGCCCGTATGGCTCA[A/T]CTTCGACGGCGAGCCGCAGCCCTACCCAAC 10761708 chr3 10183800 10183801 CI994273 + 6 DM NULL VHL Haemangioblastoma TCCGCGCGTCGTGCTGCCCGTATGGCTCAA[-/A]CTTCGACGGCGAGCCGCAGCCCTACCCAAC 10567493 chr3 10183799 10183800 HM971480 + 1 DM NULL VHL Von Hippel-Lindau syndrome AGTCCGCGCGTCGTGCTGCCCGTATGGCTC[A/T]ACTTCGACGGCGAGCCGCAGCCCTACCCAA HGOL chr3 10183799 10183800 CM085764 + 1 DM NULL VHL Phaeochromocytoma AGTCCGCGCGTCGTGCTGCCCGTATGGCTC[A/C]ACTTCGACGGCGAGCCGCAGCCCTACCCAA 18251729 chr3 10183797 10183798 CM941368 + 1 DM rs5030807 VHL Von Hippel-Lindau syndrome GCAGTCCGCGCGTCGTGCTGCCCGTATGGC[T/C]CAACTTCGACGGCGAGCCGCAGCCCTACCC 7987306 chr3 10183796 10183797 CM125937 + 1 DM? NULL VHL Von Hippel-Lindau syndrome CGCAGTCCGCGCGTCGTGCTGCCCGTATGG[C/T]TCAACTTCGACGGCGAGCCGCAGCCCTACC 22357542 chr3 10183795 10183796 CM994241 + 1 DM NULL VHL Haemangioblastoma TCGCAGTCCGCGCGTCGTGCTGCCCGTATG[G/C]CTCAACTTCGACGGCGAGCCGCAGCCCTAC 10567493 chr3 10183795 10183796 CM003059 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCGCAGTCCGCGCGTCGTGCTGCCCGTATG[G/A]CTCAACTTCGACGGCGAGCCGCAGCCCTAC 11058902 chr3 10183794 10183796 HX971376 + 4 DM NULL VHL Von Hippel-Lindau syndrome ATCGCAGTCCGCGCGTCGTGCTGCCCGTAT[GGC/TT]TCAACTTCGACGGCGAGCCGCAGCCCTACC HGOL chr3 10183794 10183795 CM995326 + 1 DM NULL VHL Von Hippel-Lindau syndrome ATCGCAGTCCGCGCGTCGTGCTGCCCGTAT[G/A]GCTCAACTTCGACGGCGAGCCGCAGCCCTA 10408776 chr3 10183794 10183795 CM951277 + 1 DM rs119103277 VHL Von Hippel-Lindau syndrome ATCGCAGTCCGCGCGTCGTGCTGCCCGTAT[G/C]GCTCAACTTCGACGGCGAGCCGCAGCCCTA 8634692 chr3 10183793 10183794 CM951278 + 1 DM NULL VHL Von Hippel-Lindau syndrome AATCGCAGTCCGCGCGTCGTGCTGCCCGTA[T/A]GGCTCAACTTCGACGGCGAGCCGCAGCCCT 7728151 chr3 10183793 10183794 CM031392 + 1 DM NULL VHL Von Hippel-Lindau syndrome AATCGCAGTCCGCGCGTCGTGCTGCCCGTA[T/C]GGCTCAACTTCGACGGCGAGCCGCAGCCCT 12624160 chr3 10183792 10183793 CI073785 + 6 DM NULL VHL Von Hippel-Lindau syndrome AATCGCAGTCCGCGCGTCGTGCTGCCCGTA[-/A]TGGCTCAACTTCGACGGCGAGCCGCAGCCC 17661816 chr3 10183791 10183792 CM042499 + 1 DM NULL VHL Von Hippel-Lindau syndrome GCAATCGCAGTCCGCGCGTCGTGCTGCCCG[T/C]ATGGCTCAACTTCGACGGCGAGCCGCAGCC 15300849 chr3 10183788 10183789 CM982001 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCTGCAATCGCAGTCCGCGCGTCGTGCTGC[C/G]CGTATGGCTCAACTTCGACGGCGAGCCGCA 9829911 chr3 10183788 10183789 CM951275 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCTGCAATCGCAGTCCGCGCGTCGTGCTGC[C/T]CGTATGGCTCAACTTCGACGGCGAGCCGCA 7728151 chr3 10183787 10183788 CM952019 + 1 DM NULL VHL Von Hippel-Lindau syndrome TTCTGCAATCGCAGTCCGCGCGTCGTGCTG[C/T]CCGTATGGCTCAACTTCGACGGCGAGCCGC 8634692 chr3 10183787 10183788 CM951276 + 1 DM NULL VHL Von Hippel-Lindau syndrome TTCTGCAATCGCAGTCCGCGCGTCGTGCTG[C/G]CCGTATGGCTCAACTTCGACGGCGAGCCGC 7728151 chr3 10183785 10183786 CM011823 + 1 DM rs5030828 VHL Von Hippel-Lindau syndrome TCTTCTGCAATCGCAGTCCGCGCGTCGTGC[T/C]GCCCGTATGGCTCAACTTCGACGGCGAGCC 11409863 chr3 10183785 10183786 CI951984 + 6 DM NULL VHL Von Hippel-Lindau syndrome CTTCTGCAATCGCAGTCCGCGCGTCGTGCT[-/C]GCCCGTATGGCTCAACTTCGACGGCGAGCC 7728151 chr3 10183781 10183782 CM983401 + 1 DM rs5030827 VHL Phaeochromocytoma GTCATCTTCTGCAATCGCAGTCCGCGCGTC[G/T]TGCTGCCCGTATGGCTCAACTTCGACGGCG 8592333 chr3 10183781 10183782 CM114578 + 1 DM NULL VHL Von Hippel-Lindau syndrome GTCATCTTCTGCAATCGCAGTCCGCGCGTC[G/C]TGCTGCCCGTATGGCTCAACTTCGACGGCG 21463266 chr3 10183781 10183782 CM077652 + 1 DM NULL VHL Phaeochromocytoma GTCATCTTCTGCAATCGCAGTCCGCGCGTC[G/A]TGCTGCCCGTATGGCTCAACTTCGACGGCG 17688370 chr3 10183776 10183784 CD941806 + 5 DM NULL VHL Von Hippel-Lindau syndrome CCCAGGTCATCTTCTGCAATCGCAGTCCGC[GCGTCGTGC/-]TGCCCGTATGGCTCAACTTCGACGGCGAGC 8493574 chr3 10183776 10183777 HM090060 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCCAGGTCATCTTCTGCAATCGCAGTCCGC[G/T]CGTCGTGCTGCCCGTATGGCTCAACTTCGA 20135149 chr3 10183776 10183777 CM023994 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCCAGGTCATCTTCTGCAATCGCAGTCCGC[G/C]CGTCGTGCTGCCCGTATGGCTCAACTTCGA 12202531 chr3 10183775 10183776 HM971792 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCCCAGGTCATCTTCTGCAATCGCAGTCCG[C/G]GCGTCGTGCTGCCCGTATGGCTCAACTTCG HGOL chr3 10183773 10183774 CM114400 + 1 DM? rs193922608 VHL Von Hippel-Lindau syndrome CCTCCCAGGTCATCTTCTGCAATCGCAGTC[C/T]GCGCGTCGTGCTGCCCGTATGGCTCAACTT 21389259 chr3 10183772 10183773 CM951274 + 1 DM rs104893829 VHL Von Hippel-Lindau syndrome CCCTCCCAGGTCATCTTCTGCAATCGCAGT[C/T]CGCGCGTCGTGCTGCCCGTATGGCTCAACT 8634692 chr3 10183772 10183773 CM140741 + 1 DM NULL VHL Erythrocytosis CCCTCCCAGGTCATCTTCTGCAATCGCAGT[C/G]CGCGCGTCGTGCTGCCCGTATGGCTCAACT 24115288 chr3 10183771 10183772 CM941367 + 1 DM NULL VHL Von Hippel-Lindau syndrome GCCCTCCCAGGTCATCTTCTGCAATCGCAG[T/G]CCGCGCGTCGTGCTGCCCGTATGGCTCAAC 7987306 chr3 10183770 10183771 CM961418 + 1 DM rs5030805 VHL Von Hippel-Lindau syndrome AGCCCTCCCAGGTCATCTTCTGCAATCGCA[G/A]TCCGCGCGTCGTGCTGCCCGTATGGCTCAA 8707293 chr3 10183770 10183771 CM951273 + 1 DM rs5030805 VHL Von Hippel-Lindau syndrome AGCCCTCCCAGGTCATCTTCTGCAATCGCA[G/T]TCCGCGCGTCGTGCTGCCCGTATGGCTCAA 7728151 chr3 10183770 10183771 CD951872 + 5 DM NULL VHL Von Hippel-Lindau syndrome AGCCCTCCCAGGTCATCTTCTGCAATCGCA[G/-]TCCGCGCGTCGTGCTGCCCGTATGGCTCAA 8634692 chr3 10183769 10183770 CM971567 + 1 DM NULL VHL Phaeochromocytoma GAGCCCTCCCAGGTCATCTTCTGCAATCGC[A/G]GTCCGCGCGTCGTGCTGCCCGTATGGCTCA 9215674 chr3 10183769 10183770 CM023993 + 1 DM NULL VHL Von Hippel-Lindau syndrome GAGCCCTCCCAGGTCATCTTCTGCAATCGC[A/C]GTCCGCGCGTCGTGCTGCCCGTATGGCTCA 12202531 chr3 10183767 10183768 CM941366 + 1 DM NULL VHL Von Hippel-Lindau syndrome GCGAGCCCTCCCAGGTCATCTTCTGCAATC[G/C]CAGTCCGCGCGTCGTGCTGCCCGTATGGCT 7987306 chr3 10183766 10183767 CM057219 + 1 DM rs200885420 VHL Polycythaemia CGCGAGCCCTCCCAGGTCATCTTCTGCAAT[C/T]GCAGTCCGCGCGTCGTGCTGCCCGTATGGC 15642680 chr3 10183764 10183765 HM971371 + 1 DM NULL VHL Von Hippel-Lindau syndrome CGCGCGAGCCCTCCCAGGTCATCTTCTGCA[A/T]TCGCAGTCCGCGCGTCGTGCTGCCCGTATG HGOL chr3 10183764 10183765 CM951272 + 1 DM rs5030804 VHL Von Hippel-Lindau syndrome CGCGCGAGCCCTCCCAGGTCATCTTCTGCA[A/G]TCGCAGTCCGCGCGTCGTGCTGCCCGTATG 7728151 chr3 10183764 10183765 CM951271 + 1 DM NULL VHL Von Hippel-Lindau syndrome CGCGCGAGCCCTCCCAGGTCATCTTCTGCA[A/C]TCGCAGTCCGCGCGTCGTGCTGCCCGTATG 7728151 chr3 10183763 10183764 CM941365 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCGCGCGAGCCCTCCCAGGTCATCTTCTGC[A/C]ATCGCAGTCCGCGCGTCGTGCTGCCCGTAT 7987306 chr3 10183763 10183764 CM130970 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCGCGCGAGCCCTCCCAGGTCATCTTCTGC[A/G]ATCGCAGTCCGCGCGTCGTGCTGCCCGTAT 23224817 chr3 10183763 10183764 CM130353 + 1 DM NULL VHL Von Hippel-Lindau syndrome TCGCGCGAGCCCTCCCAGGTCATCTTCTGC[A/T]ATCGCAGTCCGCGCGTCGTGCTGCCCGTAT 23298237 chr3 10183761 10183762 CD951871 + 5 DM NULL VHL Von Hippel-Lindau syndrome ACTCGCGCGAGCCCTCCCAGGTCATCTTCT[G/-]CAATCGCAGTCCGCGCGTCGTGCTGCCCGT 8634692 chr3 10183760 10183761 CI962363 + 6 DM NULL VHL Von Hippel-Lindau syndrome ACTCGCGCGAGCCCTCCCAGGTCATCTTCT[-/TCT]GCAATCGCAGTCCGCGCGTCGTGCTGCCCG 8707293 chr3 10183759 10183760 CM982000 + 1 DM NULL VHL Von Hippel-Lindau syndrome GAACTCGCGCGAGCCCTCCCAGGTCATCTT[C/G]TGCAATCGCAGTCCGCGCGTCGTGCTGCCC 9452032 chr3 10183759 10183760 CI941926 + 6 DM NULL VHL Von Hippel-Lindau syndrome AACTCGCGCGAGCCCTCCCAGGTCATCTTC[-/C]TGCAATCGCAGTCCGCGCGTCGTGCTGCCC 7987306 chr3 10183758 10183760 CD941805 + 5 DM rs5030648 VHL Von Hippel-Lindau syndrome TGAACTCGCGCGAGCCCTCCCAGGTCATCT[TCT/-]GCAATCGCAGTCCGCGCGTCGTGCTGCCCG 7987306 chr3 10183758 10183759 CP044545 + 4 DM NULL VHL Von Hippel-Lindau syndrome TGAACTCGCGCGAGCCCTCCCAGGTCATCT[TC/AA]TGCAATCGCAGTCCGCGCGTCGTGCTGCCC 15300849 chr3 10183758 10183759 CM981999 + 1 DM NULL VHL Von Hippel-Lindau syndrome TGAACTCGCGCGAGCCCTCCCAGGTCATCT[T/C]CTGCAATCGCAGTCCGCGCGTCGTGCTGCC 9829911 chr3 10183757 10183762 CD042626 + 5 DM NULL VHL Von Hippel-Lindau syndrome GTGAACTCGCGCGAGCCCTCCCAGGTCATC[TTCTGC/-]AATCGCAGTCCGCGCGTCGTGCTGCCCGTA 15300849 chr3 10183757 10183758 CM951270 + 1 DM NULL VHL Von Hippel-Lindau syndrome GTGAACTCGCGCGAGCCCTCCCAGGTCATC[T/A]TCTGCAATCGCAGTCCGCGCGTCGTGCTGC 7728151 chr3 10183756 10183757 CI139499 + 6 DM NULL VHL Von Hippel-Lindau syndrome GTGAACTCGCGCGAGCCCTCCCAGGTCATC[-/CATC]TTCTGCAATCGCAGTCCGCGCGTCGTGCTG 24062953 chr3 10183755 10183756 CM071136 + 1 DM NULL VHL Von Hippel-Lindau syndrome CGGTGAACTCGCGCGAGCCCTCCCAGGTCA[T/G]CTTCTGCAATCGCAGTCCGCGCGTCGTGCT 17024664 chr3 10183755 10183756 CI093526 + 6 DM NULL VHL Von Hippel-Lindau syndrome GGTGAACTCGCGCGAGCCCTCCCAGGTCAT[-/T]CTTCTGCAATCGCAGTCCGCGCGTCGTGCT 19270817 chr3 10183754 10183756 CD931246 + 5 DM NULL VHL Von Hippel-Lindau syndrome TCGGTGAACTCGCGCGAGCCCTCCCAGGTC[ATC/-]TTCTGCAATCGCAGTCCGCGCGTCGTGCTG 8493574 chr3 10183754 10183755 CD983000 + 5 DM NULL VHL Von Hippel-Lindau syndrome TCGGTGAACTCGCGCGAGCCCTCCCAGGTC[A/-]TCTTCTGCAATCGCAGTCCGCGCGTCGTGC 9452032 chr3 10183752 10183753 CM961417 + 1 DM rs5030803 VHL Von Hippel-Lindau syndrome GCTCGGTGAACTCGCGCGAGCCCTCCCAGG[T/G]CATCTTCTGCAATCGCAGTCCGCGCGTCGT 8707293 chr3 10183748 10183749 HD971372 + 5 DM NULL VHL Von Hippel-Lindau syndrome CTGCGCTCGGTGAACTCGCGCGAGCCCTCC[C/-]AGGTCATCTTCTGCAATCGCAGTCCGCGCG HGOL chr3 10183748 10183749 CM951269 + 1 DM NULL VHL Von Hippel-Lindau syndrome CTGCGCTCGGTGAACTCGCGCGAGCCCTCC[C/T]AGGTCATCTTCTGCAATCGCAGTCCGCGCG 7728151 chr3 10183745 10183746 CM071138 + 1 DM NULL VHL Von Hippel-Lindau syndrome GTGCTGCGCTCGGTGAACTCGCGCGAGCCC[T/C]CCCAGGTCATCTTCTGCAATCGCAGTCCGC 17024664 chr3 10183745 10183746 CD962175 + 5 DM NULL VHL Von Hippel-Lindau syndrome GTGCTGCGCTCGGTGAACTCGCGCGAGCCC[T/-]CCCAGGTCATCTTCTGCAATCGCAGTCCGC 8730290 chr3 10183744 10183745 CI962362 + 6 DM NULL VHL Von Hippel-Lindau syndrome GTGCTGCGCTCGGTGAACTCGCGCGAGCCC[-/GCCC]TCCCAGGTCATCTTCTGCAATCGCAGTCCG 8956040 chr3 10183741 10183742 CI983252 + 6 DM NULL VHL Von Hippel-Lindau syndrome CCCGTGCTGCGCTCGGTGAACTCGCGCGAG[-/T]CCCTCCCAGGTCATCTTCTGCAATCGCAGT 9829912 chr3 10183739 10183740 CM984688 + 1 DM NULL VHL Haemangioblastoma CGGCCCGTGCTGCGCTCGGTGAACTCGCGC[G/A]AGCCCTCCCAGGTCATCTTCTGCAATCGCA 9829912 chr3 10183739 10183740 CM951268 + 1 DM rs5030802 VHL Von Hippel-Lindau syndrome CGGCCCGTGCTGCGCTCGGTGAACTCGCGC[G/T]AGCCCTCCCAGGTCATCTTCTGCAATCGCA 7728151 chr3 10183735 10183736 CI042660 + 6 DM NULL VHL Von Hippel-Lindau syndrome CCGCGGCCCGTGCTGCGCTCGGTGAACTCG[-/G]CGCGAGCCCTCCCAGGTCATCTTCTGCAAT 15300849 chr3 10183735 10183736 CD120089 + 5 DM NULL VHL Von Hippel-Lindau syndrome GCCGCGGCCCGTGCTGCGCTCGGTGAACTC[G/-]CGCGAGCCCTCCCAGGTCATCTTCTGCAAT 21972040 chr3 10183734 10183735 CM971566 + 1 DM NULL VHL Phaeochromocytoma GGCCGCGGCCCGTGCTGCGCTCGGTGAACT[C/G]GCGCGAGCCCTCCCAGGTCATCTTCTGCAA 10627136 chr3 10183734 10183735 CM003058 + 1 DM NULL VHL Von Hippel-Lindau syndrome GGCCGCGGCCCGTGCTGCGCTCGGTGAACT[C/A]GCGCGAGCCCTCCCAGGTCATCTTCTGCAA 11058902 chr3 10183733 10183734 CM073416 + 1 DM NULL VHL Haemangioblastoma CGGCCGCGGCCCGTGCTGCGCTCGGTGAAC[T/C]CGCGCGAGCCCTCCCAGGTCATCTTCTGCA 17661816 chr3 10183728 10183729 CM114577 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCGGGCGGCCGCGGCCCGTGCTGCGCTCGG[T/G]GAACTCGCGCGAGCCCTCCCAGGTCATCTT 21463266 chr3 10183727 10183728 CD941804 + 5 DM NULL VHL Von Hippel-Lindau syndrome GCCGGGCGGCCGCGGCCCGTGCTGCGCTCG[G/-]TGAACTCGCGCGAGCCCTCCCAGGTCATCT 7987306 chr3 10183725 10183726 CM941364 + 1 DM NULL VHL Von Hippel-Lindau syndrome AGGCCGGGCGGCCGCGGCCCGTGCTGCGCT[C/T]GGTGAACTCGCGCGAGCCCTCCCAGGTCAT 7987306 chr3 10183725 10183726 CM941363 + 1 DM NULL VHL Von Hippel-Lindau syndrome AGGCCGGGCGGCCGCGGCCCGTGCTGCGCT[C/G]GGTGAACTCGCGCGAGCCCTCCCAGGTCAT 7987306 chr3 10183725 10183726 CM941362 + 1 DM rs5030826 VHL Von Hippel-Lindau syndrome AGGCCGGGCGGCCGCGGCCCGTGCTGCGCT[C/A]GGTGAACTCGCGCGAGCCCTCCCAGGTCAT 7977367 chr3 10183724 10183725 CM023992 + 1 DM NULL VHL Von Hippel-Lindau syndrome GAGGCCGGGCGGCCGCGGCCCGTGCTGCGC[T/C]CGGTGAACTCGCGCGAGCCCTCCCAGGTCA 12202531 chr3 10183724 10183725 CM020977 + 1 DM NULL VHL Phaeochromocytoma GAGGCCGGGCGGCCGCGGCCCGTGCTGCGC[T/G]CGGTGAACTCGCGCGAGCCCTCCCAGGTCA 12000816 chr3 10183722 10183723 CM981998 + 1 DM rs104893826 VHL Von Hippel-Lindau syndrome TGGAGGCCGGGCGGCCGCGGCCCGTGCTGC[G/C]CTCGGTGAACTCGCGCGAGCCCTCCCAGGT 9663592 chr3 10183720 10183723 CD941803 + 5 DM NULL VHL Von Hippel-Lindau syndrome GATGGAGGCCGGGCGGCCGCGGCCCGTGCT[GCGC/-]TCGGTGAACTCGCGCGAGCCCTCCCAGGTC 7977367 chr3 10183719 10183720 CM981997 + 1 DM rs104893827 VHL Phaeochromocytoma AGATGGAGGCCGGGCGGCCGCGGCCCGTGC[T/C]GCGCTCGGTGAACTCGCGCGAGCCCTCCCA 9663592 chr3 10183719 10183720 CM092615 + 1 DM NULL VHL Von Hippel-Lindau syndrome AGATGGAGGCCGGGCGGCCGCGGCCCGTGC[T/A]GCGCTCGGTGAACTCGCGCGAGCCCTCCCA 19258401 chr3 10183716 10183726 CD108040 + 5 DM NULL VHL Von Hippel-Lindau syndrome AGGAGATGGAGGCCGGGCGGCCGCGGCCCG[TGCTGCGCTCG/-]GTGAACTCGCGCGAGCCCTCCCAGGTCATC 20351605 chr3 10183714 10183715 CI011896 + 6 DM NULL VHL Von Hippel-Lindau syndrome GAGGAGATGGAGGCCGGGCGGCCGCGGCCC[-/C]GTGCTGCGCTCGGTGAACTCGCGCGAGCCC 11409863 chr3 10183713 10183716 CD003108 + 5 DM NULL VHL Von Hippel-Lindau syndrome AGGAGGAGATGGAGGCCGGGCGGCCGCGGC[CCGT/-]GCTGCGCTCGGTGAACTCGCGCGAGCCCTC 11058902 chr3 10183711 10183712 CD951870 + 5 DM NULL VHL Von Hippel-Lindau syndrome CGAGGAGGAGATGGAGGCCGGGCGGCCGCG[G/-]CCCGTGCTGCGCTCGGTGAACTCGCGCGAG 7728151 chr3 10183707 10183708 CD941802 + 5 DM NULL VHL Von Hippel-Lindau syndrome GCGCCGAGGAGGAGATGGAGGCCGGGCGGC[C/-]GCGGCCCGTGCTGCGCTCGGTGAACTCGCG 7987306 chr3 10183706 10183707 CM114583 + 1 DM? NULL VHL Von Hippel-Lindau syndrome GGCGCCGAGGAGGAGATGGAGGCCGGGCGG[C/T]CGCGGCCCGTGCTGCGCTCGGTGAACTCGC 21463266 chr3 10183704 10183705 CI093525 + 6 DM NULL VHL Von Hippel-Lindau syndrome GGGCGCCGAGGAGGAGATGGAGGCCGGGCG[-/C]GCCGCGGCCCGTGCTGCGCTCGGTGAACTC 19270817 chr3 10183702 10183703 CI135182 + 6 DM NULL VHL Von Hippel-Lindau syndrome CTGGGCGCCGAGGAGGAGATGGAGGCCGGG[-/AGGCCGGG]CGGCCGCGGCCCGTGCTGCGCTCGGTGAAC 23720934 chr3 10183702 10183703 CD061483 + 5 DM NULL VHL Von Hippel-Lindau syndrome ACTGGGCGCCGAGGAGGAGATGGAGGCCGG[G/-]CGGCCGCGGCCCGTGCTGCGCTCGGTGAAC HGOL chr3 10183698 10183699 CI941925 + 6 DM NULL VHL Von Hippel-Lindau syndrome GGAACTGGGCGCCGAGGAGGAGATGGAGGC[-/A]CGGGCGGCCGCGGCCCGTGCTGCGCTCGGT 7987306 chr3 10183697 10183698 CI071467 + 6 DM NULL VHL Von Hippel-Lindau syndrome AGGAACTGGGCGCCGAGGAGGAGATGGAGG[-/G]CCGGGCGGCCGCGGCCCGTGCTGCGCTCGG 17024664 chr3 10183696 10183697 CI962361 + 6 DM NULL VHL Von Hippel-Lindau syndrome GAGGAACTGGGCGCCGAGGAGGAGATGGAG[-/A]GCCGGGCGGCCGCGGCCCGTGCTGCGCTCG 8956040 chr3 10183694 10183695 CM130352 + 1 DM NULL VHL Von Hippel-Lindau syndrome CCGGAGGAACTGGGCGCCGAGGAGGAGATG[G/T]AGGCCGGGCGGCCGCGGCCCGTGCTGCGCT 23298237 chr3 10183694 10183695 CI003123 + 6 DM NULL VHL Von Hippel-Lindau syndrome CGGAGGAACTGGGCGCCGAGGAGGAGATGG[-/G]AGGCCGGGCGGCCGCGGCCCGTGCTGCGCT 11058902 chr3 10183694 10183695 CD951869 + 5 DM NULL VHL Von Hippel-Lindau syndrome CCGGAGGAACTGGGCGCCGAGGAGGAGATG[G/-]AGGCCGGGCGGCCGCGGCCCGTGCTGCGCT 7728151 chr3 10183693 10183694 CI071468 + 6 DM NULL VHL Von Hippel-Lindau syndrome CCGGAGGAACTGGGCGCCGAGGAGGAGATG[-/T]GAGGCCGGGCGGCCGCGGCCCGTGCTGCGC 17024664 chr3 10183692 10183693 CI983251 + 6 DM NULL VHL Von Hippel-Lindau syndrome CCCGGAGGAACTGGGCGCCGAGGAGGAGAT[-/T]GGAGGCCGGGCGGCCGCGGCCCGTGCTGCG 9829912 chr3 10183685 10183686 CM114576 + 1 DM NULL VHL Von Hippel-Lindau syndrome GAGTCCGGCCCGGAGGAACTGGGCGCCGAG[G/T]AGGAGATGGAGGCCGGGCGGCCGCGGCCCG 21463266 chr3 10183685 10183686 CM023991 + 1 DM rs373068386 VHL Von Hippel-Lindau syndrome GAGTCCGGCCCGGAGGAACTGGGCGCCGAG[G/A]AGGAGATGGAGGCCGGGCGGCCGCGGCCCG 12202531 chr3 10183667 10183668 CM981996 + 1 DM NULL VHL Von Hippel-Lindau syndrome GAGGAGTCCGGCCCGGAAGAGTCCGGCCCG[G/T]AGGAACTGGGCGCCGAGGAGGAGATGGAGG 9829912 chr3 10183654 10183668 CD042625 + 5 DM NULL VHL Von Hippel-Lindau syndrome GGAGTCGGGCGCCGAGGAGTCCGGCCCGGA[AGAGTCCGGCCCGGA/-]GGAACTGGGCGCCGAGGAGGAGATGGAGGC 15300849 chr3 10183643 10183644 CM981995 + 1 DM NULL VHL Phaeochromocytoma GACGGCGGGGAGGAGTCGGGCGCCGAGGAG[T/C]CCGGCCCGGAAGAGTCCGGCCCGGAGGAAC 9452032 chr3 10183605 10183606 CM981994 + 1 DM? rs35460768 VHL Phaeochromocytoma CGGAGGAGGCAGGCGTCGAAGAGTACGGCC[C/T]TGAAGAAGACGGCGGGGAGGAGTCGGGCGC 9663592 chr3 10183567 10183568 CM114582 + 1 DM? NULL VHL Von Hippel-Lindau syndrome CCGGAGGGCGGAGAACTGGGACGAGGCCGA[G/C]GTAGGCGCGGAGGAGGCAGGCGTCGAAGAG 21463266 chr3 10183559 10183560 CM140740 + 1 DM NULL VHL Erythrocytosis ggaATGCCCCGGAGGGCGGAGAACTGGGAC[G/T]AGGCCGAGGTAGGCGCGGAGGAGGCAGGCG 24115288 ############################################################## chr2:96930681-96932686 TMEM127 1 chr2 96058050 96058063 00000 1 chr2 96931137 96931138 CR109021 - 3 DM rs121908813 TMEM127 Phaeochromocytoma CGGCGGCGACCAGCAGCGACTGCGGAGCGA[C/T]GGCGGGCGGCCCCGGGCATGTACGCCCCCG 21156949 chr2 96931117 96931118 CM109011 - 1 DM rs121908814 TMEM127 Phaeochromocytoma tgcggagcgacggcgggcggccccgggcAT[G/T]TACGCCCCCGGAGGCGCAGGGCTGCCCGGC 21156949 chr2 96931044 96931045 CM109013 - 1 DM rs121908815 TMEM127 Phaeochromocytoma AGGAGCCCGGGAGGCAGCGCTCTGCCCAAG[C/T]AGCCGGAGCGTAGCCTGGCCTCGGCCCTGC 21156949 chr2 96931007 96931008 CM123834 - 1 DM NULL TMEM127 Phaeochromocytoma AGCGTAGCCTGGCCTCGGCCCTGCCTGGCG[C/A]CCTGTCTATCACGGCGCTGTGCACTGCCCT 22517554 chr2 96931000 96931003 CD109019 - 5 DM NULL TMEM127 Phaeochromocytoma TAGCCTGGCCTCGGCCCTGCCTGGCGCCCT[GTCT/-]ATCACGGCGCTGTGCACTGCCCTCGCCGAG 21156949 chr2 96930980 96930981 CM106602 - 1 DM NULL TMEM127 Phaeochromocytoma GCGCCCTGTCTATCACGGCGCTGTGCACTG[C/A]CCTCGCCGAGCCCGCCTGGTTGCACATCCA 20923864 chr2 96930970 96930971 CI101227 - 6 DM rs121908817 TMEM127 Phaeochromocytoma TATCACGGCGCTGTGCACTGCCCTCGCCGA[-/A]GCCCGCCTGGTTGCACATCCACGGAGGCAC 20154675 chr2 96930962 96930963 CM109015 - 1 DM rs121908818 TMEM127 Phaeochromocytoma CGCTGTGCACTGCCCTCGCCGAGCCCGCCT[G/C]GTTGCACATCCACGGAGGCACCTGTTCGCG 21156949 chr2 96930928 96930929 CI123530 - 6 DM NULL TMEM127 Phaeochromocytoma GCACATCCACGGAGGCACCTGTTCGCGCCA[-/CA]GGAGCTGGGGGTCTCCGACGTGTTGGGCTA 22419703 chr2 96930918 96930919 CD123534 - 5 DM NULL TMEM127 Phaeochromocytoma GGAGGCACCTGTTCGCGCCAGGAGCTGGGG[G/-]TCTCCGACGTGTTGGGCTATGTGCACCCGG 22419703 chr2 96930903 96930904 CM109012 - 1 DM rs121908820 TMEM127 Phaeochromocytoma CGCCAGGAGCTGGGGGTCTCCGACGTGTTG[G/C]GCTATGTGCACCCGGACCTGCTGAAAGgtg 21156949 ############################################################## chr2:73115521-73115646 SPR 1 chr2 72365627 72365827 11010 1 chr2 73115626 73115627 CM064289 + 1 DM rs104893666 SPR Tetrahydrobiopterin deficiency TTAACATCTCGTCCCTCTGTGCCCTGCAAC[C/T]TTTCAAAGGCTGGGCGCTGTACTGTGCAGG 16917893 chr2 73115586 73115590 CD012546 + 5 DM NULL SPR Tetrahydrobiopterin deficiency AAGGCCTTCCCGGACAGTCCTGGCCTCAAC[AGAAC/-]CGTGGTTAACATCTCGTCCCTCTGTGCCCT 11443547 chr2 73115586 73115587 CM012475 + 1 DM rs104893665 SPR Tetrahydrobiopterin deficiency AAGGCCTTCCCGGACAGTCCTGGCCTCAAC[A/G]GAACCGTGGTTAACATCTCGTCCCTCTGTG 11443547 chr2 73115551 73115552 CM102992 + 1 DM NULL SPR Tetrahydrobiopterin deficiency TGACCTCCATGCTCTGCCTGACTTCCAGCG[T/A]CCTGAAGGCCTTCCCGGACAGTCCTGGCCT 20222129 chr2 73115545 73115546 CM119168 + 1 DM NULL SPR Sepiapterin reductase deficiency TGAACTTGACCTCCATGCTCTGCCTGACTT[C/T]CAGCGTCCTGAAGGCCTTCCCGGACAGTCC 23430877 ############################################################## chr2:73114123-73115291 SPR 1 chr2 72365627 72365827 11010 1 chr2 73114865 73114866 CS112165 + 2 DM NULL SPR Tetrahydrobiopterin deficiency CTGCAGCGACTGCTGCTTATCAACAACGCG[G/T]gtaagaccccggggctggagcggactcccc 21431957 chr2 73114549 73114550 CR045494 + 3 DM NULL SPR Dystonia: dopa-responsive TGCCTGGTCTCGGGTGCCAGCGCCGCCGGC[G/A]GAGAACAGGAGCATGGAGGGCGGGCTGGGG 15241655 chr2 73114352 73114353 CR092019 + 3 FP rs1876487 SPR Reduced expression TCTGTTGTCCCACTTGGCACGGACTGGGCT[C/A]CCGCCACGGTTTGACTTCCGCCACCAGCAA 19415819 ############################################################## chr22:42526382-42528078 CYP2D6 1 chr22 42528043 42528204 10000 1 chr22 42527291 42527292 CR131349 - 3 FP rs74966855 CYP2D6 Increased promoter activity CATCAGGAGCTCTAAGGCCCCAGGTAAGTG[C/A]CAGTGACAGATAAGGGTGCTGAAGGTCACT 23469064 chr22 42526763 42526764 CM033368 - 1 FP rs769258 CYP2D6 Ultrarapid metaboliser ATGGGGCTAGAAGCACTGGTGCCCCTGGCC[G/A]TGATAGTGGCCATCTTCCTGCTCCTGGTGG 14635107 chr22 42526721 42526722 CM087929 - 1 FP rs267608313 CYP2D6 Poor metaboliser ATCTTCCTGCTCCTGGTGGACCTGATGCAC[C/T]GGCGCCAACGCTGGGCTGCACGCTACCCAC 18784265 chr22 42526694 42526695 CM900081 - 1 FP rs1065852 CYP2D6 Poor metaboliser CACCGGCGCCAACGCTGGGCTGCACGCTAC[C/T]CACCAGGCCCCCTGCCACTGCCCGGGCTGG 2211621 chr22 42526670 42526671 CM960482 - 1 FP rs5030862 CYP2D6 Poor metaboliser CGCTACCCACCAGGCCCCCTGCCACTGCCC[G/A]GGCTGGGCAACCTGCTGCATGTGGACTTCC 8655150 chr22 42526656 42526657 CI962744 - 6 FP NULL CYP2D6 Poor metaboliser CCCCCTGCCACTGCCCGGGCTGGGCAACCT[-/T]GCTGCATGTGGACTTCCAGAACACACCATA 8807669 ############################################################## chr2:241813148-241814505 STK25 1 chr2 242448099 242448244 10100 1 chr2 241813484 241813485 CS054172 + 2 DM rs180177256 AGXT Hyperoxaluria CTCATCTCCTTCAGTGACAAGGCCAAgtga[G/C]tgacccacagaccctcacctctgtgcaggg 15963748 chr2 241813480 241813481 CS093819 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/C]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813480 241813481 CS093818 + 2 DM rs111996685 AGXT Hyperoxaluria CTCGCTCATCTCCTTCAGTGACAAGGCCAA[G/A]tgagtgacccacagaccctcacctctgtgc 19479957 chr2 241813478 241813481 CD013632 + 5 DM rs180177255 AGXT Hyperoxaluria ACCTCGCTCATCTCCTTCAGTGACAAGGCC[AAGT/-]GAGTGACCCACAGACCCTCACCTCTGTGCA 11708860 chr2 241813461 241813463 CD127038 + 5 DM NULL AGXT Hyperoxaluria TGAACGCCCCTCCAGGGACCTCGCTCATCT[CCT/-]TCAGTGACAAGGCCAAGTGAGTGACCCACA 22844106 chr2 241813460 241813461 CM093804 + 1 DM rs180177254 AGXT Hyperoxaluria CTGAACGCCCCTCCAGGGACCTCGCTCATC[T/C]CCTTCAGTGACAAGGCCAAgtgagtgaccc 19479957 chr2 241813452 241813453 CM053748 + 1 DM rs180177253 AGXT Hyperoxaluria AGAAGGCCCTGAACGCCCCTCCAGGGACCT[C/T]GCTCATCTCCTTCAGTGACAAGGCCAAgtg 15963748 chr2 241813445 241813446 CM065967 + 1 DM rs180177252 AGXT Hyperoxaluria GGCTCCCAGAAGGCCCTGAACGCCCCTCCA[G/A]GGACCTCGCTCATCTCCTTCAGTGACAAGG 16543981 chr2 241813441 241813444 CD093827 + 5 DM rs180177251 AGXT Hyperoxaluria CTCGGGCTCCCAGAAGGCCCTGAACGCCCC[TCCA/-]GGGACCTCGCTCATCTCCTTCAGTGACAAG 19479957 chr2 241813413 241813414 CM093803 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/A]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813413 241813414 CM093802 + 1 DM rs180177248 AGXT Hyperoxaluria acccatctacagGCATCGACATCCTGTACT[C/T]GGGCTCCCAGAAGGCCCTGAACGCCCCTCC 19479957 chr2 241813412 241813413 CM910017 + 1 DM rs121908520 AGXT Hyperoxaluria cacccatctacagGCATCGACATCCTGTAC[T/C]CGGGCTCCCAGAAGGCCCTGAACGCCCCTC 2039493 chr2 241813411 241813412 CM056521 + 1 DM rs180177247 AGXT Hyperoxaluria ccacccatctacagGCATCGACATCCTGTA[C/A]TCGGGCTCCCAGAAGGCCCTGAACGCCCCT 15849466 chr2 241813402 241813403 CM056519 + 1 DM rs180177246 AGXT Hyperoxaluria ccgagcaaaccacccatctacagGCATCGA[C/A]ATCCTGTACTCGGGCTCCCAGAAGGCCCTG 15849466 ############################################################## chr2:241808640-241809095 AGXT 1 chr2 242760400 242760594 00000 2 chr2 241808781 241808782 CS093817 + 2 DM rs113681235 AGXT Hyperoxaluria GCGAGCCGTGGACATCGGGGAGCGCATAGg[T/G]aagggagaggcccaggtggggatggccctg 19479957 chr2 241808780 241808781 CS057594 + 2 DM NULL AGXT Hyperoxaluria AGCGAGCCGTGGACATCGGGGAGCGCATAG[G/A]taagggagaggcccaggtggggatggccct 15961946 chr2 241808767 241808768 HM971432 + 1 DM rs180177207 AGXT Hyperoxaluria GGCATTTGGGGGCAGCGAGCCGTGGACATC[G/A]GGGAGCGCATAGgtaagggagaggcccagg HGOL chr2 241808756 241808757 CM034083 + 1 DM NULL AGXT Hyperoxaluria TTGGGGCCAATGGCATTTGGGGGCAGCGAG[C/A]CGTGGACATCGGGGAGCGCATAGgtaaggg 12559847 chr2 241808753 241808754 CM093795 + 1 DM rs180177203 AGXT Hyperoxaluria TGGTTGGGGCCAATGGCATTTGGGGGCAGC[G/A]AGCCGTGGACATCGGGGAGCGCATAGgtaa 19479957 chr2 241808752 241808753 CM042932 + 1 DM rs180177202 AGXT Hyperoxaluria CTGGTTGGGGCCAATGGCATTTGGGGGCAG[C/T]GAGCCGTGGACATCGGGGAGCGCATAGgta 15110324 chr2 241808748 241808749 CD054291 + 5 DM rs180177200 AGXT Hyperoxaluria CTTCCTGGTTGGGGCCAATGGCATTTGGGG[G/-]CAGCGAGCCGTGGACATCGGGGAGCGCATA 15963748 chr2 241808747 241808748 CM093794 + 1 DM rs180177199 AGXT Hyperoxaluria CCTTCCTGGTTGGGGCCAATGGCATTTGGG[G/T]GCAGCGAGCCGTGGACATCGGGGAGCGCAT 19479957 chr2 241808744 241808745 CM093793 + 1 DM rs180177198 AGXT Hyperoxaluria ACTCCTTCCTGGTTGGGGCCAATGGCATTT[G/A]GGGGCAGCGAGCCGTGGACATCGGGGAGCG 19479957 chr2 241808743 241808744 CM983924 + 1 DM rs180177197 AGXT Hyperoxaluria GACTCCTTCCTGGTTGGGGCCAATGGCATT[T/C]GGGGGCAGCGAGCCGTGGACATCGGGGAGC 9604803 chr2 241808729 241808730 CX078164 + 4 DM NULL AGXT Hyperoxaluria TGCTGGAGCCTGGGGACTCCTTCCTGGTTG[G/TCCTGGTTGA]GGCCAATGGCATTTGGGGGCAGCGAGCCGT 17460142 chr2 241808723 241808724 CM093792 + 1 DM rs180177195 AGXT Hyperoxaluria TCAATGTGCTGGAGCCTGGGGACTCCTTCC[T/C]GGTTGGGGCCAATGGCATTTGGGGGCAGCG 19479957 chr2 241808706 241808707 HI971434 + 6 DM rs180177190 AGXT Hyperoxaluria CTGGAGGCCGCCCTGGTCAATGTGCTGGAG[-/GAG]CCTGGGGACTCCTTCCTGGTTGGGGCCAAT HGOL chr2 241808704 241808705 CM093791 + 1 DM rs180177189 AGXT Hyperoxaluria GCCCTGGAGGCCGCCCTGGTCAATGTGCTG[G/A]AGCCTGGGGACTCCTTCCTGGTTGGGGCCA 19479957 chr2 241808697 241808698 CD093825 + 5 DM rs180177187 AGXT Hyperoxaluria ACACTGTGCCCTGGAGGCCGCCCTGGTCAA[T/-]GTGCTGGAGCCTGGGGACTCCTTCCTGGTT 19479957 chr2 241808669 241808670 CM093790 + 1 DM rs180177186 AGXT Hyperoxaluria CACTCACACTGGTCATCTCTGGCTCGGGAC[A/G]CTGTGCCCTGGAGGCCGCCCTGGTCAATGT 19479957 chr2 241808666 241808667 CM920011 + 1 DM rs121908522 AGXT Hyperoxaluria ACCCACTCACACTGGTCATCTCTGGCTCGG[G/A]ACACTGTGCCCTGGAGGCCGCCCTGGTCAA 1349575 chr2 241808665 241808666 CM042931 + 1 DM rs180177185 AGXT Hyperoxaluria AACCCACTCACACTGGTCATCTCTGGCTCG[G/C]GACACTGTGCCCTGGAGGCCGCCCTGGTCA 15253729 chr2 241808663 241808664 CM093789 + 1 DM rs180177184 AGXT Hyperoxaluria GGAACCCACTCACACTGGTCATCTCTGGCT[C/T]GGGACACTGTGCCCTGGAGGCCGCCCTGGT 19479957 chr2 241808648 241808649 CI001559 + 6 DM rs180177183 AGXT Hyperoxaluria CGTGTTCCAGACCAGGAACCCACTCACACT[-/TCACACT]GGTCATCTCTGGCTCGGGACACTGTGCCCT 10862087 ############################################################## chr2:241807609-241808399 AGXT 1 chr2 242760400 242760594 00000 2 chr2 241808389 241808390 CM093784 + 1 DM rs180177162 AGXT Hyperoxaluria TGGGGCCTGGTCCTTCCAACCTGCCTCCTC[G/A]CATCATGGCAGCCGGGGGGCTGCAGATGAT 19479957 chr2 241808388 241808389 CM072851 + 1 DM rs180177157 AGXT Hyperoxaluria CTGGGGCCTGGTCCTTCCAACCTGCCTCCT[C/T]GCATCATGGCAGCCGGGGGGCTGCAGATGA 17495019 chr2 241808365 241808366 CD093824 + 5 DM rs180177278 AGXT Hyperoxaluria TCTCCATCCCCAACCAGCTCCTGCTGGGGC[C/-]TGGTCCTTCCAACCTGCCTCCTCGCATCAT 19479957 chr2 241808359 241808360 CM072844 + 1 DM rs180177268 AGXT Hyperoxaluria AGCCCCTCTCCATCCCCAACCAGCTCCTGC[T/C]GGGGCCTGGTCCTTCCAACCTGCCTCCTCG 17460142 chr2 241808356 241808357 CM072846 + 1 DM rs180177262 AGXT Hyperoxaluria TCAAGCCCCTCTCCATCCCCAACCAGCTCC[T/G]GCTGGGGCCTGGTCCTTCCAACCTGCCTCC 17460142 chr2 241808315 241808316 HI971435 + 6 DM rs180177206 AGXT Hyperoxaluria GCCTCTCACAAGCTGCTGGTGACCCCCCCC[-/C]AAGGCCCTGCTCAAGCCCCTCTCCATCCCC HGOL chr2 241808315 241808316 HD971436 + 5 DM rs180177205 AGXT Hyperoxaluria GGCCTCTCACAAGCTGCTGGTGACCCCCCC[C/-]AAGGCCCTGCTCAAGCCCCTCTCCATCCCC HGOL chr2 241808314 241808315 CM910014 + 1 DFP rs34116584 AGXT Hyperoxaluria: association with TGGCCTCTCACAAGCTGCTGGTGACCCCCC[C/T]CAAGGCCCTGCTCAAGCCCCTCTCCATCCC 1703535 chr2 241808314 241808315 CM093783 + 1 DM rs34116584 AGXT Hyperoxaluria TGGCCTCTCACAAGCTGCTGGTGACCCCCC[C/G]CAAGGCCCTGCTCAAGCCCCTCTCCATCCC 19479957 chr2 241808314 241808315 CD073566 + 5 DM rs180177201 AGXT Hyperoxaluria TGGCCTCTCACAAGCTGCTGGTGACCCCCC[CC/-]AAGGCCCTGCTCAAGCCCCTCTCCATCCCC 17495019 chr2 241808308 241808309 CM056286 + 1 DM rs115014558 AGXT Hyperoxaluria ggaccATGGCCTCTCACAAGCTGCTGGTGA[C/A]CCCCCCCAAGGCCCTGCTCAAGCCCCTCTC 15849466 chr2 241808285 241808286 CM093782 + 1 DM rs180177213 AGXT Hyperoxaluria ttcccgagcggcaggttgggtgcggaccAT[G/T]GCCTCTCACAAGCTGCTGGTGACCCCCCCC 19479957 chr2 241808284 241808285 CX073788 + 4 DM rs180177194 AGXT Hyperoxaluria GTTCCCGAGCGGCAGGTTGGGTGCGGACCA[TG/AT]GCCTCTCACAAGCTGCTGGTGACCCCCCCC 17495019 chr2 241808284 241808285 CM042930 + 1 DM rs138584408 AGXT Hyperoxaluria gttcccgagcggcaggttgggtgcggaccA[T/C]GGCCTCTCACAAGCTGCTGGTGACCCCCCC 15464418 ############################################################## chr22:24128824-24129936 SMARCB1 1 chr22 23558977 23559000 10100 3 chr22 24129449 24129450 CS110288 + 2 DM NULL SMARCB1 Rhabdoid tumour CGACGGCGAGTTCTACATGATCGGCTCCGA[G/C]gtagcccggggcgcgttctcgccctccccg 21208904 chr22 24129449 24129450 CM108558 + 1 DM NULL SMARCB1 Rhabdoid tumour CGACGGCGAGTTCTACATGATCGGCTCCGA[G/C]gtagcccggggcgcgttctcgccctccccg 21108436 chr22 24129448 24129449 CM101721 + 1 DM rs267607072 SMARCB1 Schwannomatosis: familial ACGACGGCGAGTTCTACATGATCGGCTCCG[A/T]Ggtagcccggggcgcgttctcgccctcccc 19582488 chr22 24129442 24129447 CD084229 + 5 DM NULL SMARCB1 Schwannomatosis TGGAGGACGACGGCGAGTTCTACATGATCG[GCTCCG/-]AGGTAGCCCGGGGCGCGTTCTCGCCCTCCC 18285426 chr22 24129441 24129442 CM123779 + 1 DM? NULL SMARCB1 Schwannomatosis CTGGAGGACGACGGCGAGTTCTACATGATC[G/C]GCTCCGAGgtagcccggggcgcgttctcgc 22434358 chr22 24129402 24129403 CM083782 + 1 DM NULL SMARCB1 Schwannomatosis: familial CTGAGCAAGACCTTCGGGCAGAAGCCCGTG[A/T]AGTTCCAGCTGGAGGACGACGGCGAGTTCT 18285426 chr22 24129397 24129398 CM083781 + 1 DM NULL SMARCB1 Schwannomatosis: familial TGGCGCTGAGCAAGACCTTCGGGCAGAAGC[C/A]CGTGAAGTTCCAGCTGGAGGACGACGGCGA 18285426 chr22 24129396 24129397 CM123778 + 1 DM? NULL SMARCB1 Schwannomatosis ATGGCGCTGAGCAAGACCTTCGGGCAGAAG[C/T]CCGTGAAGTTCCAGCTGGAGGACGACGGCG 22434358 chr22 24129390 24129391 CM071095 + 1 DM rs74315513 SMARCB1 Schwannomatosis: familial ATGATGATGGCGCTGAGCAAGACCTTCGGG[C/T]AGAAGCCCGTGAAGTTCCAGCTGGAGGACG 17357086 chr22 24129386 24129387 CD110780 + 5 DM NULL SMARCB1 Schwannomatosis AATGATGATGATGGCGCTGAGCAAGACCTT[C/-]GGGCAGAAGCCCGTGAAGTTCCAGCTGGAG 21255467 chr22 24129129 24129130 CR075272 + 3 FP rs11704810 SMARCB1 Increased expression GCGGAGGCGCGCCCGGCCTTTTGTTTGAGC[G/T]GCGGCGCGCGCGTCAGCGTCAACGCCAGCG 17616514 ############################################################## chr22:19165309-19167291 ENSG00000100075 1 chr22 19958230 19958987 11101 1 chr22 19166162 19166163 CI132520 - 6 DM NULL SLC25A1 Hydroxyglutaric aciduria: combined D-2 & L-2 CCCGCCATGCCCGCGCCCCGCGCCCCGCGC[-/CCCGCGC]GCTCTGGCGGCCGCCGCGCCCGCGTCCGGG 23561848 chr22 19165714 19165715 CM132516 - 1 DM NULL SLC25A1 Hydroxyglutaric aciduria: combined D-2 & L-2 CGGGTGGCATCGAGATCTGCATCACCTTCC[C/T]CACCGAGTACGTGAAGACGCAGCTGCAGCT 23561848 ############################################################## chr2:20646105-20648862 RHOB 1 chr2 20927906 20928184 10110 1 chr2 20646632 20646633 CR068234 + 3 DFP rs585017 RHOB Osteoarthritis: association with GCCAGAGCCCCGCAGCGGCAGCAGCAGCGC[A/G]GACTCCCCGGTCGCTGCCTCTCCCAGCCCG 16642435 ############################################################## chr2:178127939-178130315 NFE2L2 1 chr2 178116825 178117139 11001 3 chr2 178130073 178130074 CR1210189 - 3 DFP rs35652124 NFE2L2 Oligoasthenozoospermia: increased risk GGAGAATGGAGACACGTGGGAGTTCAGAGG[G/A]GGGCGTTCAGGGTGACTGCGAACACGAGCT 22648520 chr2 178130037 178130038 CR073551 - 3 DFP rs6721961 NFE2L2 Acute lung injury: association with TTCAGGGTGACTGCGAACACGAGCTGCCGG[C/A]GCTGTCCACATCTCCCCTAGGCAGGGCCCA 17384144 ############################################################## chr2:170219794-170220267 LRP2 1 chr2 170219027 170219272 11000 1 chr2 170219881 170219882 CR103125 - 3 DFP rs3755166 LRP2 Alzheimer disease: increased risk: association with CTGTAGATGTGGTGCTGAATAATTGCTAAA[C/T]AAGGATCCAACCTCCCCAACAAAGATCCAC 20052685 ############################################################## chr2:157188786-157191130 NR4A2 1 chr2 157190121 157190327 10001 1 chr2 157189174 157189175 CR092630 - 3 DM NULL NR4A2 Parkinson disease CCAGGGCCAGTCCGCCCGGCGGCTCGCGCA[C/T]GGCTCCGCGGTCCCTTTTGCCTGTCCAGCC 19429166 chr2 157189110 157189111 CR030127 - 3 FP NULL NR4A2 Reduced expression CGCCTGTCCCTGCTCCCTCCCTCCGTGAGG[T/G]GTCCGGGTTCCCTTCGCCCAGCTCTCCCAC 12496759 ############################################################## chr21:46326800-46328277 ITGB2 1 chr21 46331939 46332185 11000 2 chr21 46326974 46326975 CM120011 - 1 DM NULL ITGB2 Leukocyte adhesion deficiency ACAGGGCCGGGGGATCCTGACTCCATTCGC[T/C]GCGACACCCGGCCACAGCTGCTCATGAGGG 22134107 chr21 46326972 46326973 CM120004 - 1 DM NULL ITGB2 Leukocyte adhesion deficiency AGGGCCGGGGGATCCTGACTCCATTCGCTG[C/A]GACACCCGGCCACAGCTGCTCATGAGGGGC 22134107 chr21 46326959 46326960 CM022411 - 1 DM NULL ITGB2 Leukocyte adhesion deficiency CCTGACTCCATTCGCTGCGACACCCGGCCA[C/T]AGCTGCTCATGAGGGGCTGTGCGGCTGACG 11882363 chr21 46326929 46326930 CM087183 - 1 DM? rs141799330 ITGB2 Hirschsprung disease-associated enterocolitis CAGCTGCTCATGAGGGGCTGTGCGGCTGAC[G/A]ACATCATGGACCCCACAAGCCTCGCTGAAA 18675632 chr21 46326890 46326891 CD120026 - 5 DM NULL ITGB2 Leukocyte adhesion deficiency GACCCCACAAGCCTCGCTGAAACCCAGGAA[G/-]ACCACAATGGGGGCCAGAAGCAGCTGTCCC 22134107 chr21 46326844 46326845 CM120012 - 1 DM rs145851783 ITGB2 Leukocyte adhesion deficiency AGAAGCAGCTGTCCCCACAAAAAGTGACGC[T/C]TTACCTGCGACCAGgtaggcttggcctcgg 22134107 chr21 46326829 46326830 CS078443 - 2 DM NULL ITGB2 Leukocyte adhesion deficiency CACAAAAAGTGACGCTTTACCTGCGACCAG[G/A]taggcttggcctcggtggtggtgccaggca 17244687 ############################################################## chr2:136870789-136874313 CXCR4 1 chr2 136870945 136871105 11111 1 chr2 136872528 136872529 CI128719 - 6 DM NULL CXCR4 WHIM syndrome CAGCACGCACTCACCTCTGTGAGCAGAGGG[-/G]TCCAGCCTCAAGATCCTCTCCAAAGGAAAG 23009155 chr2 136872501 136872502 BM1324681 - 1 DM NULL CXCR4 WHIM syndrome GGGTCCAGCCTCAAGATCCTCTCCAAAGGA[A/T]AGCGAGGTGGACATTCATCTGTTTCCACTG 24139496 chr2 136872498 136872499 CM030831 - 1 DM rs104893624 CXCR4 WHIM syndrome TCCAGCCTCAAGATCCTCTCCAAAGGAAAG[C/T]GAGGTGGACATTCATCTGTTTCCACTGAGT 12692554 chr2 136872492 136872493 CM045454 - 1 DM NULL CXCR4 WHIM syndrome CTCAAGATCCTCTCCAAAGGAAAGCGAGGT[G/T]GACATTCATCTGTTTCCACTGAGTCTGAGT 15026312 chr2 136872485 136872486 CM066016 - 1 DM rs104893626 CXCR4 WHIM syndrome TCCTCTCCAAAGGAAAGCGAGGTGGACATT[C/G]ATCTGTTTCCACTGAGTCTGAGTCTTCAAG 17087743 chr2 136872481 136872482 CD031036 - 5 DM NULL CXCR4 WHIM syndrome TCTCCAAAGGAAAGCGAGGTGGACATTCAT[CT/-]GTTTCCACTGAGTCTGAGTCTTCAAGTTTT 12692554 chr2 136872477 136872478 CD0911366 - 5 DM NULL CXCR4 WHIM syndrome AAAGGAAAGCGAGGTGGACATTCATCTGTT[T/-]CCACTGAGTCTGAGTCTTCAAGTTTTCACT 19321197 chr2 136872471 136872472 CM125860 - 1 DM NULL CXCR4 WHIM syndrome AAGCGAGGTGGACATTCATCTGTTTCCACT[G/A]AGTCTGAGTCTTCAAGTTTTCACTCCAGCT 22596258 chr2 136872471 136872472 CM030832 - 1 DM rs104893625 CXCR4 WHIM syndrome AAGCGAGGTGGACATTCATCTGTTTCCACT[G/T]AGTCTGAGTCTTCAAGTTTTCACTCCAGCT 12692554 ############################################################## chr21:36258117-36261487 RUNX1 1 chr21 36258524 36258689 10100 1 chr21 36259336 36259337 CM137027 - 1 DM? rs200431130 RUNX1 Acute myeloid leukaemia CGCCTTCCACCGCGCTGAGCCCAGGCAAGA[T/A]GAGCGAGGCGTTGCCGCTGGGCGCCCCGGA 23753029 chr21 36259327 36259328 CI086070 - 6 DM NULL RUNX1 Platelet disorder: familial CCGCGCTGAGCCCAGGCAAGATGAGCGAGG[-/G]CGTTGCCGCTGGGCGCCCCGGACGCCGGCG 18723428 chr21 36259174 36259175 CM1312706 - 1 DM NULL RUNX1 Platelet dense granule secretion defect: excessive bleeding ACTTCCTCTGCTCCGTGCTGCCTACGCACT[G/A]GCGCTGCAACAAGACCCTGCCCATCGCTTT 24100448 chr21 36259163 36259164 CM025982 - 1 DM rs121912498 RUNX1 Platelet disorder: familial TCCGTGCTGCCTACGCACTGGCGCTGCAAC[A/G]AGACCCTGCCCATCGCTTTCAAGgtactgg 11830488 chr21 36259139 36259140 CS1312705 - 2 DM NULL RUNX1 Platelet dense granule secretion defect: excessive bleeding TGCAACAAGACCCTGCCCATCGCTTTCAAG[G/T]tactggcccggagagggtggtgggaggaca 24100448 chr21 36259139 36259140 CS086072 - 2 DM NULL RUNX1 Platelet disorder: familial TGCAACAAGACCCTGCCCATCGCTTTCAAG[G/A]tactggcccggagagggtggtgggaggaca 18723428 ############################################################## chr2:122287499-122288960 CLASP1 1 chr2 122325638 122325869 11010 2 chr2 122288579 122288580 CR123785 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I AGCTTTTGCTTTATTTTGGTGCAATTTTTG[G/A]AAAAATGAAAACCTGTTTTCATAGACTTAT 22581640 chr2 122288566 122288567 CR112398 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I CCGCATCAACTAGAGCTTTTGCTTTATTTT[G/A]GTGCAATTTTTGGAAAAATGAAAACCTGTT 21474760 chr2 122288521 122288522 CR123784 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I TGAGCGCATAGTGAGGGCAGTACTGCTAAC[G/C]CCTGAACAACACACCCGCATCAACTAGAGC 22581640 chr2 122288510 122288511 CR112396 + 3 DM NULL RNU4ATAC Microcephalic primordial dwarfism: type I CTACTGTCCAATGAGCGCATAGTGAGGGCA[G/A]TACTGCTAACGCCTGAACAACACACCCGCA 21474760 chr2 122288508 122288509 CR112401 + 3 DM? rs180755563 RNU4ATAC Microcephalic primordial dwarfism: type I CGCTACTGTCCAATGAGCGCATAGTGAGGG[C/G]AGTACTGCTAACGCCTGAACAACACACCCG 21474761 chr2 122288506 122288507 CR112395 + 3 DM rs188343279 RNU4ATAC Microcephalic primordial dwarfism: type I TGCGCTACTGTCCAATGAGCGCATAGTGAG[G/A]GCAGTACTGCTAACGCCTGAACAACACACC 21474760 chr2 122288505 122288506 CR112400 + 3 DM? NULL RNU4ATAC Microcephalic primordial dwarfism: type I TTGCGCTACTGTCCAATGAGCGCATAGTGA[G/C]GGCAGTACTGCTAACGCCTGAACAACACAC 21474761 chr2 122288505 122288506 CR112399 + 3 DM? NULL RNU4ATAC Microcephalic primordial dwarfism: type I TTGCGCTACTGTCCAATGAGCGCATAGTGA[G/A]GGCAGTACTGCTAACGCCTGAACAACACAC 21474761 chr2 122288485 122288486 CR112397 + 3 DM rs374299350 RNU4ATAC Microcephalic primordial dwarfism: type I TAACCATCCTTTTCTTGGGGTTGCGCTACT[G/A]TCCAATGAGCGCATAGTGAGGGCAGTACTG 21474760 ############################################################## chr20:48552685-48554089 RNF114 1 chr20 47669868 47670079 10000 2 chr20 48552936 48552937 CR123855 + 3 DM NULL RNF114 Psoriasis: susceptibility to TCCTCCTCATCGGCCGCCGTTGCGCGGCGC[A/C]GAGCGGCAGCAAGATGGCGGCGCAACAGCG 22205304 chr20 48552904 48552905 CR123854 + 3 DM NULL RNF114 Psoriasis: susceptibility to CTCACCGCCCCGCGAGCCCCGCCCCCTCGG[C/T]CTCCTCCTCATCGGCCGCCGTTGCGCGGCG 22205304 chr20 48552881 48552882 CR123852 + 3 DM NULL RNF114 Psoriasis: susceptibility to CCCGCTAGCCCCGCCCCCAACCGCTCACCG[C/A]CCCGCGAGCCCCGCCCCCTCGGCCTCCTCC 22205304 chr20 48552879 48552880 CR123853 + 3 DM NULL RNF114 Psoriasis: susceptibility to CACCCGCTAGCCCCGCCCCCAACCGCTCAC[C/A]GCCCCGCGAGCCCCGCCCCCTCGGCCTCCT 22205304 ############################################################## chr20:44537659-44538336 PLTP 1 chr20 44555998 44556169 11000 1 chr20 44538179 44538180 CM094280 - 1 DM? NULL PLTP Ataxia with vitamin E deficiency TCTCCTGCCAGGCCTCTGTCTCCAGAATGC[A/G]CGCGGCCTTCGGGGGAACCTTCAAgtaagc 19252769 ############################################################## chr20:44520847-44521232 CTSA 1 chr20 44555998 44556169 11000 1 chr20 44521073 44521074 CM961139 + 1 DM rs137854545 CTSA Galactosialidosis AATGTGTTATACCTGGAGTCCCCAGCTGGG[G/A]TGGGCTTCTCCTACTCCGATGACAAGTTTT 8968752 ############################################################## chr20:44518731-44520655 CTSA 1 chr20 44555998 44556169 11000 1 chr20 44520653 44520654 CM137463 + 1 DM NULL CTSA Galactosialidosis GCAGCTCACTAGATGGGCTCCTCACAGAGC[A/G]TGGCCCCTTCCTGgtgagtggacagcaggg 23915561 chr20 44520629 44520630 CM983752 + 1 DM rs137854542 CTSA Galactosialidosis TTTGGCTCAATGGGGGTCCCGGCTGCAGCT[C/T]ACTAGATGGGCTCCTCACAGAGCATGGCCC 9435242 chr20 44520628 44520629 CP931382 + 4 DM NULL CTSA Galactosialidosis CTTTGGCTCAATGGGGGTCCCGGCTGCAGC[TC/CT]ACTAGATGGGCTCCTCACAGAGCATGGCCC 8514852 chr20 44520614 44520615 CM088139 + 1 DM NULL CTSA Galactosialidosis ACAGCCCTGTGGTGCTTTGGCTCAATGGGG[G/T]TCCCGGCTGCAGCTCACTAGATGGGCTCCT 18937050 chr20 44520613 44520614 CM033801 + 1 DM NULL CTSA Galactosialidosis AACAGCCCTGTGGTGCTTTGGCTCAATGGG[G/A]GTCCCGGCTGCAGCTCACTAGATGGGCTCC 12649068 chr20 44520400 44520401 CM931196 + 1 DM rs28934603 CTSA Galactosialidosis AAAGGCTCCGGCTCCAAGCACCTCCACTAC[T/C]Ggtctgccgccctgccttctgggcgggatt 8514852 chr20 44520359 44520360 CM961138 + 1 DM NULL CTSA Galactosialidosis TGGCCAAGCAGCCGTCTTTCCGCCAGTACT[C/A]CGGCTACCTCAAAGGCTCCGGCTCCAAGCA 8968752 chr20 44520353 44520354 CM931195 + 1 DM rs137854541 CTSA Galactosialidosis CCGGGCTGGCCAAGCAGCCGTCTTTCCGCC[A/G]GTACTCCGGCTACCTCAAAGGCTCCGGCTC 8514852 chr20 44520319 44520320 CD962128 + 5 DM NULL CTSA Galactosialidosis GCAGCCCCCGACCAGGACGAGATCCAGCGC[C/-]TCCCCGGGCTGGCCAAGCAGCCGTCTTTCC 8968752 chr20 44520267 44520268 CD043199 + 5 DM NULL CTSA Galactosialidosis CCTGCTGCTGCTGCTGCTGCTGCTGCTAGT[G/-]TCCTGGGCGTCCCGAGGCGAGGCAGCCCCC 15110321 ############################################################## chr20:43042655-43043823 SYS1 1 chr20 43990557 43990835 10100 1 chr20 43043303 43043304 CS052049 + 2 DM NULL HNF4A Diabetes: MODY GCTTTCTGCGAGCTCCCCCTGGACGACCAG[G/A]tgaggatgggcgtggatggtgggcagtagt 15830177 chr20 43043300 43043301 CM1310940 + 1 DM NULL HNF4A Diabetes: MODY CCAGCTTTCTGCGAGCTCCCCCTGGACGAC[C/T]AGgtgaggatgggcgtggatggtgggcagt 24097065 chr20 43043297 43043298 CM051934 + 1 DM NULL HNF4A Diabetes: MODY ATCCCAGCTTTCTGCGAGCTCCCCCTGGAC[G/T]ACCAGgtgaggatgggcgtggatggtgggc 15830177 chr20 43043281 43043282 CM133273 + 1 DM NULL HNF4A Diabetes: MODY TGAGTGGGCCAAGTACATCCCAGCTTTCTG[C/G]GAGCTCCCCCTGGACGACCAGgtgaggatg 23348805 chr20 43043259 43043260 CM076232 + 1 DM NULL HNF4A Diabetes: MODY1 AGGAGCAGCTGCTGGTTCTCGTTGAGTGGG[C/T]CAAGTACATCCCAGCTTTCTGCGAGCTCCC 17937063 chr20 43043250 43043251 CM082884 + 1 DM NULL HNF4A Diabetes: MODY AGTCCATGAAGGAGCAGCTGCTGGTTCTCG[T/C]TGAGTGGGCCAAGTACATCCCAGCTTTCTG 18356407 chr20 43043234 43043235 CM133272 + 1 DM NULL HNF4A Diabetes: MODY ATCGCAGATGTGTGTGAGTCCATGAAGGAG[C/A]AGCTGCTGGTTCTCGTTGAGTGGGCCAAGT 23348805 chr20 43043210 43043211 CI053025 + 6 DM NULL HNF4A Diabetes: MODY TTCGGGCGAAGAAGATTGCCAGCATCGCAG[-/G]ATGTGTGTGAGTCCATGAAGGAGCAGCTGC 15928245 chr20 43043184 43043185 CM1310372 + 1 DM rs142883089 HNF4A Diabetes: MODY CCCCCGTCTCCGGGATCAACGGCGACATTC[G/A]GGCGAAGAAGATTGCCAGCATCGCAGATGT 23771925 chr20 43043177 43043178 CM1310939 + 1 DM NULL HNF4A Diabetes: MODY ATCACCTCCCCCGTCTCCGGGATCAACGGC[G/A]ACATTCGGGCGAAGAAGATTGCCAGCATCG 24097065 chr20 43043159 43043160 CM043848 + 1 DM rs142204928 HNF4A Diabetes mellitus: type 2 tccctgtatctctcgaagATCACCTCCCCC[G/A]TCTCCGGGATCAACGGCGACATTCGGGCGA 15281001 chr20 43043145 43043146 CS075162 + 2 DM NULL HNF4A Diabetes: MODY ctccagcattttcttccctgtatctctcga[A/G]gATCACCTCCCCCGTCTCCGGGATCAACGG 17407387 chr20 43043143 43043144 CS043891 + 2 DM rs146751799 HNF4A Diabetes mellitus: type 2 atctccagcattttcttccctgtatctctc[G/A]aagATCACCTCCCCCGTCTCCGGGATCAAC 15281001 ############################################################## chr20:10652051-10655194 JAG1 1 chr20 10652328 10652472 10101 1 chr20 10654175 10654176 CP005286 - 4 DM NULL JAG1 Alagille syndrome CCGAGTGCCCGCGGCGCGCGGCGCAGCGAT[GC/TT]GTTCCCCACGGACGCGCGGCCGGTCCGGGC 11180599 chr20 10654143 10654149 CX003219 - 4 DM NULL JAG1 Alagille syndrome GATGCGTTCCCCACGGACGCGCGGCCGGTC[CGGGCGC/ACTCGGGA]CCCCTAAGCCTCCTGCTCGCCCTGCTCTGT 11139247 chr20 10654139 10654140 CD003193 - 5 DM NULL JAG1 Alagille syndrome CCACGGACGCGCGGCCGGTCCGGGCGCCCC[C/-]TAAGCCTCCTGCTCGCCCTGCTCTGTGCCC 11139247 chr20 10654138 10654139 CD993773 - 5 DM NULL JAG1 Alagille syndrome CACGGACGCGCGGCCGGTCCGGGCGCCCCC[T/-]AAGCCTCCTGCTCGCCCTGCTCTGTGCCCT 10220506 chr20 10654120 10654121 CM124889 - 1 DM NULL JAG1 Alagille syndrome CCGGGCGCCCCCTAAGCCTCCTGCTCGCCC[T/C]GCTCTGTGCCCTGCGAGCCAAGgtaggagc 21752016 chr20 10654115 10654116 CM123123 - 1 DM NULL JAG1 Alagille syndrome CGCCCCCTAAGCCTCCTGCTCGCCCTGCTC[T/C]GTGCCCTGCGAGCCAAGgtaggagcccttc 22488849 chr20 10654112 10654113 CD003518 - 5 DM NULL JAG1 Alagille syndrome CCCCCTAAGCCTCCTGCTCGCCCTGCTCTG[TG/-]CCCTGCGAGCCAAGGTAGGAGCCCTTCTCC 11180599 chr20 10654109 10654110 CD003519 - 5 DM NULL JAG1 Alagille syndrome CTAAGCCTCCTGCTCGCCCTGCTCTGTGCC[C/-]TGCGAGCCAAGGTAGGAGCCCTTCTCCGGG 11180599 chr20 10654106 10654107 CM993737 - 1 DM NULL JAG1 Alagille syndrome AGCCTCCTGCTCGCCCTGCTCTGTGCCCTG[C/T]GAGCCAAGgtaggagcccttctccgggcct 10220506 chr20 10654105 10654116 CD062191 - 5 DM NULL JAG1 Alagille syndrome GCGCCCCCTAAGCCTCCTGCTCGCCCTGCT[CTGTGCCCTGCG/-]AGCCAAGGTAGGAGCCCTTCTCCGGGCCTC 16575836 chr20 10654097 10654098 CS062062 - 2 DM NULL JAG1 Alagille syndrome CTCGCCCTGCTCTGTGCCCTGCGAGCCAAG[G/A]taggagcccttctccgggcctccctcccag 16575836 chr20 10654095 10654106 CD003095 - 5 DM NULL JAG1 Alagille syndrome AGCCTCCTGCTCGCCCTGCTCTGTGCCCTG[CGAGCCAAGGTA/-]GGAGCCCTTCTCCGGGCCTCCCTCCCAGCC 11058898 chr20 10653656 10653657 CS030119 - 2 DM NULL JAG1 Alagille syndrome cgcgctgacctacctccttccctcgccggc[A/G]gGTGTGTGGGGCCTCGGGTCAGTTCGAGTT 12497640 chr20 10653652 10653653 CD030140 - 5 DM NULL JAG1 Alagille syndrome CTGACCTACCTCCTTCCCTCGCCGGCAGGT[G/-]TGTGGGGCCTCGGGTCAGTTCGAGTTGGAG 12497640 chr20 10653644 10653645 CM030046 - 1 DM NULL JAG1 Alagille syndrome cctccttccctcgccggcagGTGTGTGGGG[C/T]CTCGGGTCAGTTCGAGTTGGAGATCCTGTC 12497640 chr20 10653639 10653640 CM061807 - 1 DM NULL JAG1 Alagille syndrome ttccctcgccggcagGTGTGTGGGGCCTCG[G/A]GTCAGTTCGAGTTGGAGATCCTGTCCATGC 16575836 chr20 10653638 10653639 CM061808 - 1 DM NULL JAG1 Alagille syndrome tccctcgccggcagGTGTGTGGGGCCTCGG[G/T]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 16575836 chr20 10653638 10653639 CM003434 - 1 DM NULL JAG1 Alagille syndrome tccctcgccggcagGTGTGTGGGGCCTCGG[G/A]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 11180599 chr20 10653637 10653638 CI016171 - 6 DM NULL JAG1 Alagille syndrome CCCTCGCCGGCAGGTGTGTGGGGCCTCGGG[-/G]TCAGTTCGAGTTGGAGATCCTGTCCATGCA 11359464 chr20 10653626 10653627 CM003435 - 1 DM rs121918352 JAG1 Alagille syndrome agGTGTGTGGGGCCTCGGGTCAGTTCGAGT[T/C]GGAGATCCTGTCCATGCAGAACGTGAACGG 11180599 chr20 10653620 10653621 CM023393 - 1 DM NULL JAG1 Alagille syndrome GTGGGGCCTCGGGTCAGTTCGAGTTGGAGA[T/G]CCTGTCCATGCAGAACGTGAACGGGGAGCT 12442286 chr20 10653617 10653618 CM030047 - 1 DM NULL JAG1 Alagille syndrome GGGCCTCGGGTCAGTTCGAGTTGGAGATCC[T/C]GTCCATGCAGAACGTGAACGGGGAGCTGCA 12497640 chr20 10653609 10653610 CM003436 - 1 DM NULL JAG1 Alagille syndrome GGTCAGTTCGAGTTGGAGATCCTGTCCATG[C/T]AGAACGTGAACGGGGAGCTGCAGAACGGGA 11180599 chr20 10653603 10653604 CM023735 - 1 DM rs183974372 JAG1 Biliary atresia: extrahepatic TTCGAGTTGGAGATCCTGTCCATGCAGAAC[G/T]TGAACGGGGAGCTGCAGAACGGGAACTGCT 12297837 chr20 10653594 10653595 CM003146 - 1 DM NULL JAG1 Alagille syndrome GAGATCCTGTCCATGCAGAACGTGAACGGG[G/T]AGCTGCAGAACGGGAACTGCTGCGGCGGCG 11139247 chr20 10653590 10653591 CD993774 - 5 DM NULL JAG1 Alagille syndrome TCCTGTCCATGCAGAACGTGAACGGGGAGC[T/-]GCAGAACGGGAACTGCTGCGGCGGCGCCCG 10220506 chr20 10653588 10653589 CM003437 - 1 DM NULL JAG1 Alagille syndrome CTGTCCATGCAGAACGTGAACGGGGAGCTG[C/T]AGAACGGGAACTGCTGCGGCGGCGCCCGGA 11180599 chr20 10653584 10653597 CD062186 - 5 DM NULL JAG1 Alagille syndrome TTGGAGATCCTGTCCATGCAGAACGTGAAC[GGGGAGCTGCAGAA/-]CGGGAACTGCTGCGGCGGCGCCCGGAACCC 16575836 chr20 10653579 10653580 CM023736 - 1 DM NULL JAG1 Biliary atresia: extrahepatic CAGAACGTGAACGGGGAGCTGCAGAACGGG[A/G]ACTGCTGCGGCGGCGCCCGGAACCCGGGAG 12297837 chr20 10653574 10653575 CX016172 - 4 DM NULL JAG1 Alagille syndrome ACGTGAACGGGGAGCTGCAGAACGGGAACT[GC/AA]TGCGGCGGCGCCCGGAACCCGGGAGACCGC 11359464 chr20 10653571 10653572 CM061819 - 1 DM NULL JAG1 Alagille syndrome GAACGGGGAGCTGCAGAACGGGAACTGCTG[C/A]GGCGGCGCCCGGAACCCGGGAGACCGCAAG 16575836 chr20 10653558 10653564 CD051313 - 5 DM NULL JAG1 Alagille syndrome GAGCTGCAGAACGGGAACTGCTGCGGCGGC[GCCCGGA/-]ACCCGGGAGACCGCAAGTGCACCCGCGACG 15712272 chr20 10653542 10653543 CM023737 - 1 DM NULL JAG1 Biliary atresia: extrahepatic GCGGCGGCGCCCGGAACCCGGGAGACCGCA[A/T]GTGCACCCGCGACGAGTGTGACACATACTT 12297837 chr20 10653524 10653525 CI124920 - 6 DM NULL JAG1 Alagille syndrome CGGGAGACCGCAAGTGCACCCGCGACGAGT[-/T]GTGACACATACTTCAAAGTGTGCCTCAAGG 21752016 chr20 10653512 10653513 CM030048 - 1 DM NULL JAG1 Alagille syndrome AGTGCACCCGCGACGAGTGTGACACATACT[T/C]CAAAGTGTGCCTCAAGGAGTATCAGTCCCG 12497640 chr20 10653511 10653525 CD003520 - 5 DM NULL JAG1 Alagille syndrome CCGGGAGACCGCAAGTGCACCCGCGACGAG[TGTGACACATACTTC/-]AAAGTGTGCCTCAAGGAGTATCAGTCCCGC 11180599 chr20 10653511 10653512 CM124890 - 1 DM NULL JAG1 Alagille syndrome GTGCACCCGCGACGAGTGTGACACATACTT[C/A]AAAGTGTGCCTCAAGGAGTATCAGTCCCGC 21752016 chr20 10653504 10653505 CM124891 - 1 DM NULL JAG1 Alagille syndrome CGCGACGAGTGTGACACATACTTCAAAGTG[T/C]GCCTCAAGGAGTATCAGTCCCGCGTCACGG 21752016 chr20 10653504 10653505 CM123124 - 1 DM NULL JAG1 Alagille syndrome CGCGACGAGTGTGACACATACTTCAAAGTG[T/G]GCCTCAAGGAGTATCAGTCCCGCGTCACGG 22488849 chr20 10653503 10653504 CM016139 - 1 DM NULL JAG1 Alagille syndrome GCGACGAGTGTGACACATACTTCAAAGTGT[G/A]CCTCAAGGAGTATCAGTCCCGCGTCACGGC 11359464 chr20 10653503 10653504 CM003438 - 1 DM NULL JAG1 Alagille syndrome GCGACGAGTGTGACACATACTTCAAAGTGT[G/C]CCTCAAGGAGTATCAGTCCCGCGTCACGGC 11180599 chr20 10653501 10653502 CM102869 - 1 DM NULL JAG1 Alagille syndrome GACGAGTGTGACACATACTTCAAAGTGTGC[C/T]TCAAGGAGTATCAGTCCCGCGTCACGGCCG 20437613 chr20 10653500 10653501 CM993738 - 1 DM NULL JAG1 Alagille syndrome ACGAGTGTGACACATACTTCAAAGTGTGCC[T/A]CAAGGAGTATCAGTCCCGCGTCACGGCCGG 10220506 chr20 10653495 10653496 CM016138 - 1 DM NULL JAG1 Alagille syndrome TGTGACACATACTTCAAAGTGTGCCTCAAG[G/T]AGTATCAGTCCCGCGTCACGGCCGGGGGGC 11359464 chr20 10653466 10653470 CX062302 - 4 DM NULL JAG1 Alagille syndrome TCAAGGAGTATCAGTCCCGCGTCACGGCCG[GGGGG/CTT]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 16575836 chr20 10653466 10653467 CD062180 - 5 DM NULL JAG1 Alagille syndrome GGAGTATCAGTCCCGCGTCACGGCCGGGGG[G/-]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 16575836 chr20 10653465 10653466 CI983121 - 6 DM NULL JAG1 Alagille syndrome GAGTATCAGTCCCGCGTCACGGCCGGGGGG[-/G]CCCTGCAGCTTCGGCTCAGGGTCCACGCCT 9585603 chr20 10653462 10653463 CM061805 - 1 DM NULL JAG1 Alagille syndrome TATCAGTCCCGCGTCACGGCCGGGGGGCCC[T/C]GCAGCTTCGGCTCAGGGTCCACGCCTGTCA 16575836 chr20 10653461 10653462 CM061815 - 1 DM NULL JAG1 Alagille syndrome ATCAGTCCCGCGTCACGGCCGGGGGGCCCT[G/A]CAGCTTCGGCTCAGGGTCCACGCCTGTCAT 16575836 chr20 10653449 10653450 CM061810 - 1 DM NULL JAG1 Alagille syndrome TCACGGCCGGGGGGCCCTGCAGCTTCGGCT[C/A]AGGGTCCACGCCTGTCATCGGGGGCAACAC 16575836 chr20 10653445 10653446 CD062194 - 5 DM NULL JAG1 Alagille syndrome GGCCGGGGGGCCCTGCAGCTTCGGCTCAGG[G/-]TCCACGCCTGTCATCGGGGGCAACACCTTC 16575836 chr20 10653439 10653445 CD062195 - 5 DM NULL JAG1 Alagille syndrome GGCCGGGGGGCCCTGCAGCTTCGGCTCAGG[GTCCACG/-]CCTGTCATCGGGGGCAACACCTTCAACCTC 16575836 chr20 10653398 10653399 CI123126 - 6 DM NULL JAG1 Alagille syndrome GGGGCAACACCTTCAACCTCAAGGCCAGCC[-/C]GCGGCAACGACCGCAACCGCATCGTGCTGC 22488849 chr20 10653377 10653378 CM051088 - 1 DM NULL JAG1 Alagille syndrome AGGCCAGCCGCGGCAACGACCGCAACCGCA[T/A]CGTGCTGCCTTTCAGTTTCGCCTGGCCGgt 15712272 chr20 10653371 10653372 HM080056 - 1 DM NULL JAG1 Alagille syndrome GCCGCGGCAACGACCGCAACCGCATCGTGC[T/C]GCCTTTCAGTTTCGCCTGGCCGgtgagtga HGOL chr20 10653369 10653370 CM030049 - 1 DM NULL JAG1 Alagille syndrome CGCGGCAACGACCGCAACCGCATCGTGCTG[C/T]CTTTCAGTTTCGCCTGGCCGgtgagtgact 12497640 chr20 10653365 10653366 HI080021 - 6 DM NULL JAG1 Alagille syndrome GCAACGACCGCAACCGCATCGTGCTGCCTT[-/CT]TCAGTTTCGCCTGGCCGGTGAGTGACTACT HGOL chr20 10653358 10653359 CD030141 - 5 DM NULL JAG1 Alagille syndrome CCGCAACCGCATCGTGCTGCCTTTCAGTTT[C/-]GCCTGGCCGGTGAGTGACTACTCGGGAAGG 12497640 chr20 10653357 10653358 CM993739 - 1 DM NULL JAG1 Alagille syndrome CGCAACCGCATCGTGCTGCCTTTCAGTTTC[G/A]CCTGGCCGgtgagtgactactcgggaagga 10220506 chr20 10653353 10653354 CM030050 - 1 DM NULL JAG1 Alagille syndrome ACCGCATCGTGCTGCCTTTCAGTTTCGCCT[G/A]GCCGgtgagtgactactcgggaaggaggcc 12497640 chr20 10653350 10653351 CM993740 - 1 DM NULL JAG1 Alagille syndrome GCATCGTGCTGCCTTTCAGTTTCGCCTGGC[C/G]Ggtgagtgactactcgggaaggaggccggg 10220506 chr20 10653348 10653349 CS062063 - 2 DM NULL JAG1 Alagille syndrome ATCGTGCTGCCTTTCAGTTTCGCCTGGCCG[G/A]tgagtgactactcgggaaggaggccgggcg 16575836 chr20 10653347 10653348 HS080020 - 2 DM NULL JAG1 Alagille syndrome TCGTGCTGCCTTTCAGTTTCGCCTGGCCGg[T/C]gagtgactactcgggaaggaggccgggcgg HGOL ############################################################## chr19:6719200-6719777 C3 1 chr19 5955000 5955051 11010 2 chr19 6719301 6719302 CM138805 - 1 DM NULL C3 Haemolytic uraemic syndrome TTCCAGTCACTGTTACTGTCCACGACTTCC[C/T]AGGCAAAAAACTAGTGCTGTCCAGTGAGAA 23847193 chr19 6719296 6719297 CM125143 - 1 DM NULL C3 Haemolytic uraemic syndrome: atypical GTCACTGTTACTGTCCACGACTTCCCAGGC[A/C]AAAAACTAGTGCTGTCCAGTGAGAAGACTG 22669319 ############################################################## chr19:5689955-5691662 RPL36 1 chr19 5955000 5955051 11010 2 chr19 5691567 5691568 CD088108 + 5 DM? NULL RPL36 Diamond-Blackfan anaemia TGGCAGGTGGGGACGCACATCCGCGCCAAG[AG/-]GAAGCGGGAGGAGCTGAGCAACGTACTGGC 19061985 ############################################################## chr19:52263952-52267907 FPR2 1 chr19 52267961 52268143 10000 1 chr19 52264213 52264214 CR119914 + 3 FP NULL FPR2 Reduced promoter activity GAAGGAAGGGCTGGACATTCAGATTCCTTG[A/G]CCCTTGACATTTGGAAGCATGAACTCCAGT 22131270 ############################################################## chr19:51868505-51871836 ETFB 1 chr19 51865936 51866297 10000 4 chr19 51869532 51869533 CM088127 - 1 DM? NULL ETFB Glutaricacidaemia 2 CTCGTAGCTGTCAAGAGGGTCATCGACTAC[G/C]CCGTGAAGgtgatcgggcccccctctccca 17977044 chr19 51869526 51869527 CM081235 - 1 DM NULL ETFB Glutaricacidaemia 2b GCTGTCAAGAGGGTCATCGACTACGCCGTG[A/T]AGgtgatcgggcccccctctcccacatccc 18289905 ############################################################## chr19:49465709-49469066 FTL 1 chr19 49465708 49465818 10001 1 chr19 49468853 49468854 CM091262 + 1 DM NULL FTL Hyperferritinaemia TGGTCAATTTGTACCTGCAGGCCTCCTACA[C/T]CTACCTCTCTCTGgtgagtccccaggacgc 19176363 chr19 49468844 49468845 CM124941 + 1 DM NULL FTL Hyperferritinaemia TCAACAGCCTGGTCAATTTGTACCTGCAGG[C/T]CTCCTACACCTACCTCTCTCTGgtgagtcc 22535864 chr19 49468841 49468842 CM124942 + 1 DM NULL FTL Hyperferritinaemia CCGTCAACAGCCTGGTCAATTTGTACCTGC[A/T]GGCCTCCTACACCTACCTCTCTCTGgtgag 22535864 chr19 49468765 49468766 CM041345 + 1 DM rs139732572 FTL L-ferritin deficiency ttgtggttagctccttcttgccaaccaacc[A/G]TGAGCTCCCAGATTCGTCAGAATTATTCCA 15173247 chr19 49468655 49468656 CR031005 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCGGGGACTCTCTTCCAGCCTCCGACCGCC[C/T]TCCGATTTCCTCTCCGCTTGCAACCTCCGG 12670350 chr19 49468621 49468622 CR061336 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCTCTTGCTTCAACAGTGTTTGGACGGAAC[A/T]GATCCGGGGACTCTCTTCCAGCCTCCGACC 16395671 chr19 49468617 49468618 CR138624 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCTGTCTCTTGCTTCAACAGTGTTTGGACG[G/C]AACAGATCCGGGGACTCTCTTCCAGCCTCC 23421845 chr19 49468616 49468617 CR003496 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GTCTGTCTCTTGCTTCAACAGTGTTTGGAC[G/C]GAACAGATCCGGGGACTCTCTTCCAGCCTC 10759702 chr19 49468615 49468616 CR085179 + 3 DM NULL FTL Hyperferritinaemia GGTCTGTCTCTTGCTTCAACAGTGTTTGGA[C/A]GGAACAGATCCGGGGACTCTCTTCCAGCCT 18710380 chr19 49468614 49468615 CR107791 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GGGTCTGTCTCTTGCTTCAACAGTGTTTGG[A/C]CGGAACAGATCCGGGGACTCTCTTCCAGCC 20578964 chr19 49468612 49468613 CR032434 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGGTCTGTCTCTTGCTTCAACAGTGTTT[G/A]GACGGAACAGATCCGGGGACTCTCTTCCAG 12730114 chr19 49468611 49468612 CR098064 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGCGGGTCTGTCTCTTGCTTCAACAGTGTT[T/G]GGACGGAACAGATCCGGGGACTCTCTTCCA 19887780 chr19 49468608 49468609 CR051708 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCCCGCGGGTCTGTCTCTTGCTTCAACAGT[G/A]TTTGGACGGAACAGATCCGGGGACTCTCTT 15690351 chr19 49468606 49468607 CR951552 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GGTCCCGCGGGTCTGTCTCTTGCTTCAACA[G/C]TGTTTGGACGGAACAGATCCGGGGACTCTC 7492760 chr19 49468605 49468606 CR951551 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGTCCCGCGGGTCTGTCTCTTGCTTCAAC[A/G]GTGTTTGGACGGAACAGATCCGGGGACTCT 7493028 chr19 49468604 49468605 CR971944 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/T]AGTGTTTGGACGGAACAGATCCGGGGACTC 9414313 chr19 49468604 49468605 CR043893 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/G]AGTGTTTGGACGGAACAGATCCGGGGACTC 15234655 chr19 49468604 49468605 CR022280 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA[C/A]AGTGTTTGGACGGAACAGATCCGGGGACTC 12199804 chr19 49468602 49468603 CR061333 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/T]ACAGTGTTTGGACGGAACAGATCCGGGGAC 16395671 chr19 49468602 49468603 CR061332 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/C]ACAGTGTTTGGACGGAACAGATCCGGGGAC 16395671 chr19 49468602 49468603 CR031004 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGGCGGTCCCGCGGGTCTGTCTCTTGCTTC[A/G]ACAGTGTTTGGACGGAACAGATCCGGGGAC 12670350 chr19 49468601 49468602 CR971943 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/A]AACAGTGTTTGGACGGAACAGATCCGGGGA 9414313 chr19 49468601 49468602 CR138623 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/T]AACAGTGTTTGGACGGAACAGATCCGGGGA 23421845 chr19 49468601 49468602 CR031003 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGGCGGTCCCGCGGGTCTGTCTCTTGCTT[C/G]AACAGTGTTTGGACGGAACAGATCCGGGGA 12670350 chr19 49468599 49468600 CR032433 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GTTCGGCGGTCCCGCGGGTCTGTCTCTTGC[T/C]TCAACAGTGTTTGGACGGAACAGATCCGGG 12730114 chr19 49468598 49468599 CR993997 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome AGTTCGGCGGTCCCGCGGGTCTGTCTCTTG[C/T]TTCAACAGTGTTTGGACGGAACAGATCCGG 10383191 chr19 49468598 49468599 CR032432 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome AGTTCGGCGGTCCCGCGGGTCTGTCTCTTG[C/A]TTCAACAGTGTTTGGACGGAACAGATCCGG 12730114 chr19 49468597 49468598 CR982414 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/T]CTTCAACAGTGTTTGGACGGAACAGATCCG 9414300 chr19 49468597 49468598 CR971942 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/A]CTTCAACAGTGTTTGGACGGAACAGATCCG 9226182 chr19 49468597 49468598 CR023756 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CAGTTCGGCGGTCCCGCGGGTCTGTCTCTT[G/C]CTTCAACAGTGTTTGGACGGAACAGATCCG 12200611 chr19 49468594 49468595 HR030029 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCGCAGTTCGGCGGTCCCGCGGGTCTGTCT[C/G]TTGCTTCAACAGTGTTTGGACGGAACAGAT HGOL chr19 49468589 49468590 CR116734 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TCCCCTCGCAGTTCGGCGGTCCCGCGGGTC[T/C]GTCTCTTGCTTCAACAGTGTTTGGACGGAA 21410535 chr19 49468587 49468588 CR061334 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CGTCCCCTCGCAGTTCGGCGGTCCCGCGGG[T/G]CTGTCTCTTGCTTCAACAGTGTTTGGACGG 16395671 chr19 49468583 49468584 CR061335 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome GCCACGTCCCCTCGCAGTTCGGCGGTCCCG[C/T]GGGTCTGTCTCTTGCTTCAACAGTGTTTGG 16395671 chr19 49468581 49468582 CR031002 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome TAGCCACGTCCCCTCGCAGTTCGGCGGTCC[C/T]GCGGGTCTGTCTCTTGCTTCAACAGTGTTT 12670350 chr19 49468579 49468580 CR011064 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCTAGCCACGTCCCCTCGCAGTTCGGCGGT[C/G]CCGCGGGTCTGTCTCTTGCTTCAACAGTGT 11238302 chr19 49468575 49468576 CR031001 + 3 DM NULL FTL Hyperferritinaemia-cataract syndrome CCGCCCTAGCCACGTCCCCTCGCAGTTCGG[C/T]GGTCCCGCGGGTCTGTCTCTTGCTTCAACA 12670350 chr19 49468572 49468573 CR107790 + 3 DM? NULL FTL Hyperferritinaemia-cataract syndrome AAGCCGCCCTAGCCACGTCCCCTCGCAGTT[C/G]GGCGGTCCCGCGGGTCTGTCTCTTGCTTCA 20578964 chr19 49468350 49468351 CR095473 + 3 DM NULL FTL Cataract: bilateral TTTCCAGAATCAGCCCCAGGGCCCCAACCC[C/A]CCCAAGCCCCCATTTCACAACACGCTGGCG 19254706 ############################################################## chr19:45438876-45439660 VASP 1 chr19 46010602 46010752 10000 1 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 ############################################################## chr19:45438876-45439660 BCAM 1 chr19 45311400 45311616 10100 1 chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 ############################################################## chr19:42363438-42365213 ENSG00000105372 1 chr19 42954479 42954678 11000 2 chr19 42365212 42365213 CI108621 + 6 DM NULL RPS19 Diamond-Blackfan anaemia CCGGGAAGCTGAAAGTCCCCGAATGGGTGG[-/G]ATACCGTCAAGCTGGCCAAGCACAAAGAGC 20960466 chr19 42365207 42365208 CM992964 + 1 DM rs104894716 RPS19 Diamond-Blackfan anaemia ttagGTCCGGGAAGCTGAAAGTCCCCGAAT[G/A]GGTGGATACCGTCAAGCTGGCCAAGCACAA 10598818 chr19 42365202 42365203 CD108615 + 5 DM NULL RPS19 Diamond-Blackfan anaemia TGGTCTTAGGTCCGGGAAGCTGAAAGTCCC[C/-]GAATGGGTGGATACCGTCAAGCTGGCCAAG 20960466 chr19 42365197 42365198 CD108614 + 5 DM NULL RPS19 Diamond-Blackfan anaemia TGTTTTGGTCTTAGGTCCGGGAAGCTGAAA[G/-]TCCCCGAATGGGTGGATACCGTCAAGCTGG 20960466 chr19 42365192 42365193 CM108591 + 1 DM NULL RPS19 Diamond-Blackfan anaemia cccactgttttggtcttagGTCCGGGAAGC[T/G]GAAAGTCCCCGAATGGGTGGATACCGTCAA 20960466 chr19 42365180 42365181 CS108605 + 2 DM rs146366047 RPS19 Diamond-Blackfan anaemia aatcgtgcttttcccactgttttggtctta[G/A]GTCCGGGAAGCTGAAAGTCCCCGAATGGGT 20960466 chr19 42365179 42365180 CS096403 + 2 DM NULL RPS19 Diamond-Blackfan anaemia gaatcgtgcttttcccactgttttggtctt[A/C]gGTCCGGGAAGCTGAAAGTCCCCGAATGGG 19689926 chr19 42365089 42365090 CS035909 + 2 DM NULL RPS19 Diamond-Blackfan anaemia ccggttccagcctctctttgtactctgggc[A/G]cagcatagttgtgttgaggggagggcattt 12750732 chr19 42364918 42364921 CD991861 + 5 DM NULL RPS19 Diamond-Blackfan anaemia TCAGAGCTCTGGCAGCCTTCCTCAAAAAGT[GAGT/-]TTGGGGACTGAGGTTCAAAACGGGTGGAGG 9988267 chr19 42364917 42364918 HS040016 + 2 DM NULL RPS19 Diamond-Blackfan anaemia GTCAGAGCTCTGGCAGCCTTCCTCAAAAAg[T/A]gagtttggggactgaggttcaaaacgggtg HGOL chr19 42364916 42364917 CS108604 + 2 DM NULL RPS19 Diamond-Blackfan anaemia CGTCAGAGCTCTGGCAGCCTTCCTCAAAAA[G/C]tgagtttggggactgaggttcaaaacgggt 20960466 chr19 42364916 42364917 CS035662 + 2 DM NULL RPS19 Diamond-Blackfan anaemia CGTCAGAGCTCTGGCAGCCTTCCTCAAAAA[G/A]tgagtttggggactgaggttcaaaacgggt 12750732 chr19 42364906 42364907 CM083085 + 1 DM NULL RPS19 Diamond-Blackfan anaemia AGCAGGAGTTCGTCAGAGCTCTGGCAGCCT[T/C]CCTCAAAAAgtgagtttggggactgaggtt 18412286 chr19 42364902 42364903 CM108590 + 1 DM NULL RPS19 Diamond-Blackfan anaemia AACCAGCAGGAGTTCGTCAGAGCTCTGGCA[G/C]CCTTCCTCAAAAAgtgagtttggggactga 20960466 chr19 42364902 42364903 CD045508 + 5 DM NULL RPS19 Diamond-Blackfan anaemia AACCAGCAGGAGTTCGTCAGAGCTCTGGCA[G/-]CCTTCCTCAAAAAGTGAGTTTGGGGACTGA 15075082 chr19 42364897 42364898 CM042768 + 1 DM NULL RPS19 Diamond-Blackfan anaemia ACGTGAACCAGCAGGAGTTCGTCAGAGCTC[T/G]GGCAGCCTTCCTCAAAAAgtgagtttgggg 15384984 chr19 42364897 42364898 CM004367 + 1 DM NULL RPS19 Diamond-Blackfan anaemia ACGTGAACCAGCAGGAGTTCGTCAGAGCTC[T/C]GGCAGCCTTCCTCAAAAAgtgagtttgggg 11112378 chr19 42364897 42364898 CI993292 + 6 DM NULL RPS19 Diamond-Blackfan anaemia CGTGAACCAGCAGGAGTTCGTCAGAGCTCT[-/AGA]GGCAGCCTTCCTCAAAAAGTGAGTTTGGGG 10590074 chr19 42364893 42364894 HM040077 + 1 DM NULL RPS19 Diamond-Blackfan anaemia AAAGACGTGAACCAGCAGGAGTTCGTCAGA[G/C]CTCTGGCAGCCTTCCTCAAAAAgtgagttt HGOL chr19 42364887 42364888 CM993204 + 1 DM rs104894717 RPS19 Diamond-Blackfan anaemia ACTGTAAAAGACGTGAACCAGCAGGAGTTC[G/T]TCAGAGCTCTGGCAGCCTTCCTCAAAAAgt 10590074 chr19 42364880 42364881 CI045909 + 6 DM NULL RPS19 Diamond-Blackfan anaemia GGAGTTACTGTAAAAGACGTGAACCAGCAG[-/AA]GAGTTCGTCAGAGCTCTGGCAGCCTTCCTC 15384984 chr19 42364878 42364891 CD108613 + 5 DM NULL RPS19 Diamond-Blackfan anaemia CCTGGAGTTACTGTAAAAGACGTGAACCAG[CAGGAGTTCGTCAG/-]AGCTCTGGCAGCCTTCCTCAAAAAGTGAGT 20960466 chr19 42364878 42364879 CM993203 + 1 DM NULL RPS19 Diamond-Blackfan anaemia CCTGGAGTTACTGTAAAAGACGTGAACCAG[C/T]AGGAGTTCGTCAGAGCTCTGGCAGCCTTCC 10590074 chr19 42364875 42364876 CM993202 + 1 DM NULL RPS19 Diamond-Blackfan anaemia ATGCCTGGAGTTACTGTAAAAGACGTGAAC[C/T]AGCAGGAGTTCGTCAGAGCTCTGGCAGCCT 10590074 chr19 42364872 42364873 CI108620 + 6 DM NULL RPS19 Diamond-Blackfan anaemia AGATGCCTGGAGTTACTGTAAAAGACGTGA[-/T]ACCAGCAGGAGTTCGTCAGAGCTCTGGCAG 20960466 chr19 42364871 42364888 CD045255 + 5 DM NULL RPS19 Diamond-Blackfan anaemia TCAGATGCCTGGAGTTACTGTAAAAGACGT[GAACCAGCAGGAGTTCGT/-]CAGAGCTCTGGCAGCCTTCCTCAAAAAGTG 12750732 chr19 42364864 42364876 CD035671 + 5 DM NULL RPS19 Diamond-Blackfan anaemia TTCTCCCTCAGATGCCTGGAGTTACTGTAA[AAGACGTGAACCA/-]GCAGGAGTTCGTCAGAGCTCTGGCAGCCTT 12750732 chr19 42364858 42364859 CI994529 + 6 DM NULL RPS19 Diamond-Blackfan anaemia TGACTTTCTCCCTCAGATGCCTGGAGTTAC[-/A]TGTAAAAGACGTGAACCAGCAGGAGTTCGT 10590074 chr19 42364858 42364859 CD108612 + 5 DM NULL RPS19 Diamond-Blackfan anaemia TTGACTTTCTCCCTCAGATGCCTGGAGTTA[C/-]TGTAAAAGACGTGAACCAGCAGGAGTTCGT 20960466 chr19 42364857 42364858 CI992077 + 6 DM rs149420497 RPS19 Diamond-Blackfan anaemia TTGACTTTCTCCCTCAGATGCCTGGAGTTA[-/A]CTGTAAAAGACGTGAACCAGCAGGAGTTCG 9988267 chr19 42364854 42364857 CD108611 + 5 DM NULL RPS19 Diamond-Blackfan anaemia ATGCTTGACTTTCTCCCTCAGATGCCTGGA[GTTA/-]CTGTAAAAGACGTGAACCAGCAGGAGTTCG 20960466 chr19 42364847 42364848 CM035654 + 1 DM rs138938035 RPS19 Diamond-Blackfan anaemia tgttcacatgcttgactttctccctcagAT[G/A]CCTGGAGTTACTGTAAAAGACGTGAACCAG 12750732 chr19 42364847 42364848 CM005392 + 1 DM rs138938035 RPS19 Diamond-Blackfan anaemia tgttcacatgcttgactttctccctcagAT[G/T]CCTGGAGTTACTGTAAAAGACGTGAACCAG 11112378 chr19 42364847 42364848 CM004366 + 1 DM NULL RPS19 Diamond-Blackfan anaemia tgttcacatgcttgactttctccctcagAT[G/C]CCTGGAGTTACTGTAAAAGACGTGAACCAG 11112378 chr19 42364846 42364847 CM108589 + 1 DM NULL RPS19 Diamond-Blackfan anaemia gtgttcacatgcttgactttctccctcagA[T/A]GCCTGGAGTTACTGTAAAAGACGTGAACCA 20960466 chr19 42364845 42364846 CM991107 + 1 DM NULL RPS19 Diamond-Blackfan anaemia tgtgttcacatgcttgactttctccctcag[A/G]TGCCTGGAGTTACTGTAAAAGACGTGAACC 9988267 chr19 42364844 42364845 CS991499 + 2 DM NULL RPS19 Diamond-Blackfan anaemia ctgtgttcacatgcttgactttctccctca[G/T]ATGCCTGGAGTTACTGTAAAAGACGTGAAC 9988267 chr19 42364844 42364845 CS108602 + 2 DM NULL RPS19 Diamond-Blackfan anaemia ctgtgttcacatgcttgactttctccctca[G/C]ATGCCTGGAGTTACTGTAAAAGACGTGAAC 20960466 chr19 42364844 42364845 CS045490 + 2 DM NULL RPS19 Diamond-Blackfan anaemia ctgtgttcacatgcttgactttctccctca[G/A]ATGCCTGGAGTTACTGTAAAAGACGTGAAC 15075082 chr19 42364843 42364844 CS108603 + 2 DM NULL RPS19 Diamond-Blackfan anaemia cctgtgttcacatgcttgactttctccctc[A/T]gATGCCTGGAGTTACTGTAAAAGACGTGAA 20960466 chr19 42364385 42364386 CS993241 + 2 DM rs74449035 RPS19 Diamond-Blackfan anaemia GCACGgtaagcgggggctccgagctggacc[G/T]ggcgcgaggtggcagggccggacgccgaag 10590074 chr19 42364187 42364188 CR099926 + 3 DM? NULL RPS19 Diamond-Blackfan anaemia CCCTCCCCTTTACCTCTCCACCCCTCACTA[G/A]ACACCCTCCCCTCTAGGCGGGGACGAACTT 20054847 ############################################################## chr19:39894449-39897987 ZFP36 1 chr19 39894295 39894567 11010 2 chr19 39897293 39897294 CR087182 + 3 DFP rs251864 ZFP36 Rheumatoid arthritis: shorter duration: association with ACCCCTTCCCCACGCATTCCCCGCTCGGTC[A/G]CGGCTGTCCACCGGCCAAGCTCAGGCGCGT 18536977 ############################################################## chr19:39190844-39192600 21185 1 chr19 39902780 39903182 10010 2 chr19 39191291 39191292 CM137816 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental TCCCACCTGCGGAAGGCAGGCACACAGATC[G/C]AGAACATTGATGAGGACTTCCGAGACGGGC 23014460 chr19 39191261 39191262 CM099872 + 1 DM? NULL ACTN4 Glomerulosclerosis: focal and segmental cttccccagACCTTCACGGCATGGTGCAAC[T/A]CCCACCTGCGGAAGGCAGGCACACAGATCG 19142020 chr19 39191252 39191253 CM056514 + 1 DM NULL ACTN4 Glomerulosclerosis: focal and segmental tttgttctgcttccccagACCTTCACGGCA[T/C]GGTGCAACTCCCACCTGCGGAAGGCAGGCA 16251236 ############################################################## chr19:36485803-36486857 SDHAF1 1 chr19 35497371 35497548 10000 1 chr19 36486346 36486347 CM128528 + 1 DM NULL SDHAF1 Leukoencephalopathy: infantile TGCTGCGCATCGAGTACCTGTACCGCCGCG[G/A]GCGGCGCCAGCTGCAGCTGCTACGCTCGGG 22995659 chr19 36486345 36486346 CM093162 + 1 DM rs137853192 SDHAF1 Leukoencephalopathy: infantile GTGCTGCGCATCGAGTACCTGTACCGCCGC[G/C]GGCGGCGCCAGCTGCAGCTGCTACGCTCGG 19465911 chr19 36486340 36486341 CM093163 + 1 DM rs137853193 SDHAF1 Leukoencephalopathy: infantile CCGACGTGCTGCGCATCGAGTACCTGTACC[G/C]CCGCGGGCGGCGCCAGCTGCAGCTGCTACG 19465911 chr19 36486198 36486199 CM128527 + 1 DM NULL SDHAF1 Leukoencephalopathy: infantile gccgcggtcATGAGCCGGCACAGCCGGCTG[C/T]AGAGGCAGGTTCTGAGCCTGTACCGCGATC 22995659 ############################################################## chr19:35772948-35773601 HAMP 1 chr19 35497371 35497548 10000 1 chr19 35773456 35773457 CR043163 + 3 DM NULL HAMP Haemochromatosis: juvenile CAGACACCAGAGCAAGCTCAAGACCCAGCA[G/A]TGGGACAGCCAGACAGACGGCACGATGGCA 15198949 chr19 35773453 35773454 HR080002 + 3 DM NULL HAMP Haemochromatosis: juvenile TCCCAGACACCAGAGCAAGCTCAAGACCCA[G/T]CAGTGGGACAGCCAGACAGACGGCACGATG HGOL chr19 35773409 35773410 CR045223 + 3 DM? rs367646034 HAMP Haemochromatosis CACCGCCTCCCCTGGCAGGCCCCATAAAAG[C/T]GACTGTCACTCGGTCCCAGACACCAGAGCA 15528154 chr19 35773328 35773329 CR092710 + 3 DM rs142126068 HAMP Haemochromatosis: HFE related TGTTCCCGCTTATCTCTCCCGCCTTTTCGG[C/T]GCCACCACCTTCTTGGAAATGAGACAGAGC 19286879 ############################################################## chr19:33792929-33796549 CEBPA 1 chr19 33796296 33796463 11000 1 chr19 33793253 33793254 CD043401 - 5 DM rs137852728 CEBPA Acute myeloid leukaemia CCCCGATGAGCAGCCACCTGCAGAGCCCCC[C/-]GCACGCGCCCAGCAGCGCCGCCTTCGGCTT 15575056 chr19 33793252 33793253 CI056483 - 6 DM rs137852729 CEBPA Acute myeloid leukaemia CCCGATGAGCAGCCACCTGCAGAGCCCCCC[-/C]GCACGCGCCCAGCAGCGCCGCCTTCGGCTT 15902292 chr19 33793132 33793133 CD118400 - 5 DM NULL CEBPA Acute myeloid leukaemia CGGCATCTGCGAGCACGAGACGTCCATCGA[C/-]ATCAGCGCCTACATCGACCCGGCCGCCTTC 21455213 chr19 33793119 33793120 CI087025 - 6 DM rs137852731 CEBPA Acute myeloid leukaemia CACGAGACGTCCATCGACATCAGCGCCTAC[-/CTAC]ATCGACCCGGCCGCCTTCAACGACGAGTTC ABST ############################################################## chr19:2475622-2479319 GADD45B 1 chr19 2478621 2479263 11010 3 chr19 2477316 2477317 CR087503 + 3 DFP rs3783501 GADD45B Inter-ventricular septum hypertrophy: assoc GCACCTGGGCCGGTGTTTGTCAACAAAGTC[A/G]GGCTGACTGGTCCTGCACAGCTCAGCGCTC 18515079 chr19 2477277 2477278 CR087500 + 3 DFP rs2024144 GADD45B Inter-ventricular septum hypertrophy: assoc ACGGTGAGTCGGGCCTCTGCCCTGCCCCGC[C/T]ACGCCCGGGCACCTGGGCCGGTGTTTGTCA 18515079 ############################################################## chr19:2253409-2254154 OAZ1 1 chr19 2269564 2269685 10110 1 chr19 2253732 2253733 CM130388 - 1 FP rs74521370 JSRP1 Downregulates activity of DHPR and affects skeletal muscle excitation-contraction coupling CGCAGACCGCGCCGCCCCTGCAGCCGCCGC[C/T]GCCGCCCCCGGCCCTGAGCGAGGAGCTGCC 22927026 ############################################################## chr19:2252047-2253225 OAZ1 1 chr19 2269564 2269685 10110 1 chr19 2252990 2252991 CM130389 - 1 FP rs80043033 JSRP1 Downregulates activity of DHPR and affects skeletal muscle excitation-contraction coupling ccgaccctgtcgctgcagACGCCGTCCCTG[G/C]GGAGGCAGCACTCCAAGCACGTGTGCCCGA 22927026 ############################################################## chr19:15288593-15288800 RAB8A 1 chr19 16222134 16222762 11000 2 chr19 15288795 15288796 CM116899 - 1 DM NULL NOTCH3 CADASIL AGCAGACGCCCCGCGGGCCGCGCTGCGCCT[G/A]CCCCCCAGGGTTGTCGGGACCCTCCTGCCG 21409506 ############################################################## chr19:12994460-12998517 KLF1 1 chr19 12994254 12994679 11000 1 chr19 12998102 12998103 CR1111665 - 3 FP rs79334031 KLF1 Blood group variant In(Lu) AAGTTTGTGCCCCAGAAACAGTGCCCCCCC[G/A]CCGCCTTGCCTTGCTTTGCCTTATCAGAGG 21423179 chr19 12998078 12998079 CR084007 - 3 DM NULL KLF1 Blood group variant In(Lu) CCCCCCGCCGCCTTGCCTTGCTTTGCCTTA[T/C]CAGAGGCTGCAGCCAATCAGCTAAGGACAG 18487511 chr19 12996892 12996893 CM121776 - 1 DM? NULL KLF1 Increased Hb F levels CGGGTCCTCCTGACCCCACGGAGCCGCCCC[T/G]CCACGTGAAGTCTGAGGACCAGCCCGGGGA 22102705 chr19 12996875 12996885 CD121777 - 5 DM NULL KLF1 Increased Hb F levels TCCTGACCCCACGGAGCCGCCCCTCCACGT[GAAGTCTGAGG/-]ACCAGCCCGGGGAGGAAGAGGACGATGAGA 22102705 chr19 12996733 12996734 CI130408 - 6 FP NULL KLF1 Blood group variant In(Lu) GCGCTCTGGCGCCCAGCGAGGCCTCCGGGG[-/G]CGCAATATCCGCCGCCGCCCGAGACTCTGG 23125034 chr19 12996664 12996665 CM083539 - 1 FP NULL KLF1 Blood group variant In(Lu) CTGGCGGCCCGGGGCTGGTGGCTGGGCTTT[T/A]GGGTTCGGAGGATCACTCGGGTTGGGTGCG 18487511 chr19 12996524 12996525 CI130409 - 6 FP NULL KLF1 Blood group variant In(Lu) CTGGCGCTGCAACCGGTGTACCCGGGGCCC[-/C]GGCGCCGGCTCCTCGGGTGGCTACTTCCCG 23125034 chr19 12996518 12996519 CI130410 - 6 FP NULL KLF1 Blood group variant In(Lu) CTGCAACCGGTGTACCCGGGGCCCGGCGCC[-/CGGCGCC]GGCTCCTCGGGTGGCTACTTCCCGCGGACC 23125034 chr19 12996517 12996518 CI121790 - 6 DM NULL KLF1 Increased Hb F levels TGCAACCGGTGTACCCGGGGCCCGGCGCCG[-/CGGCGCC]GCTCCTCGGGTGGCTACTTCCCGCGGACCG 22102705 chr19 12996498 12996499 CM1111664 - 1 FP NULL KLF1 Blood group variant In(Lu) GCCCGGCGCCGGCTCCTCGGGTGGCTACTT[C/G]CCGCGGACCGGGCTTTCAGTGCCTGCGGCG 21423179 chr19 12996475 12996476 CD084157 - 5 DM NULL KLF1 Blood group variant In(Lu) GCTACTTCCCGCGGACCGGGCTTTCAGTGC[C/-]TGCGGCGTCGGGCGCCCCCTACGGGCTACT 18487511 chr19 12996453 12996454 CM130404 - 1 FP NULL KLF1 Blood group variant In(Lu) TTCAGTGCCTGCGGCGTCGGGCGCCCCCTA[C/G]GGGCTACTGTCCGGGTACCCCGCGATGTAC 23125034 chr19 12996381 12996382 CD130407 - 5 FP NULL KLF1 Blood group variant In(Lu) GTACCAAGGGCACTTCCAGCTCTTCCGCGG[G/-]CTCCAGGGACCCGCGCCCGGTCCCGCCACG 23125034 chr19 12996235 12996236 CM112841 - 1 DM NULL KLF1 Hereditary persistence of foetal haemoglobin AGACCGCGCCATCCAAGCGAGGCCGACGTT[C/A]GTGGGCGCGCAAGAGGCAGGCAGCGCACAC 21273267 chr19 12996195 12996206 CD118480 - 5 DM? NULL KLF1 Borderline HbA2 level TCGTGGGCGCGCAAGAGGCAGGCAGCGCAC[ACGTGCGCGCAC/-]CCGGGTTGCGGCAAGAGCTACACCAAGAGC 21821711 chr19 12996182 12996183 CM130405 - 1 FP NULL KLF1 Blood group variant In(Lu) GCGCACACGTGCGCGCACCCGGGTTGCGGC[A/G]AGAGCTACACCAAGAGCTCCCACCTGAAGG 23125034 chr19 12996182 12996183 CM105458 - 1 DM rs267607202 KLF1 Hereditary persistence of foetal haemoglobin GCGCACACGTGCGCGCACCCGGGTTGCGGC[A/T]AGAGCTACACCAAGAGCTCCCACCTGAAGG 20676099 chr19 12996170 12996171 CM083534 - 1 FP rs137852687 KLF1 Blood group variant In(Lu) GCGCACCCGGGTTGCGGCAAGAGCTACACC[A/T]AGAGCTCCCACCTGAAGGCGCATCTGCGCA 18487511 chr19 12996149 12996150 CM083538 - 1 FP rs137852688 KLF1 Blood group variant In(Lu) AGCTACACCAAGAGCTCCCACCTGAAGGCG[C/T]ATCTGCGCACGCACACAGgtgagggggcgg 18487511 chr19 12996143 12996144 CM121772 - 1 DM? NULL KLF1 Increased Hb F levels ACCAAGAGCTCCCACCTGAAGGCGCATCTG[C/T]GCACGCACACAGgtgagggggcggggcccc 22102705 chr19 12996142 12996143 CM121773 - 1 DM? NULL KLF1 Increased Hb F levels CCAAGAGCTCCCACCTGAAGGCGCATCTGC[G/A]CACGCACACAGgtgagggggcggggccccg 22102705 chr19 12996140 12996141 CI138742 - 6 DM NULL KLF1 Increased Hb F levels AAGAGCTCCCACCTGAAGGCGCATCTGCGC[-/GCGC]ACGCACACAGGTGAGGGGGCGGGGCCCCGG 23806141 chr19 12996130 12996131 CS121778 - 2 DM? NULL KLF1 Increased Hb F levels ACCTGAAGGCGCATCTGCGCACGCACACAG[G/A]tgagggggcggggccccggacatgagaaag 22102705 chr19 12995875 12995878 CD121785 - 5 DM NULL KLF1 Increased Hb F levels AGACAGTGGCGCTTATGGCTTCCTTGTCCC[CTAG/-]GGGAGAAGCCATACGCCTGCACGTGGGAAG 22102705 chr19 12995849 12995850 CM121792 - 1 DM? NULL KLF1 Increased Hb F levels cctagGGGAGAAGCCATACGCCTGCACGTG[G/T]GAAGGCTGCGGCTGGAGATTCGCGCGCTCG 22102705 chr19 12995833 12995834 CI084287 - 6 DM NULL KLF1 Blood group variant In(Lu) TACGCCTGCACGTGGGAAGGCTGCGGCTGG[-/G]AGATTCGCGCGCTCGGACGAGCTGACCCGC 18487511 chr19 12995815 12995816 CM099513 - 1 DM rs267607201 KLF1 Dyserythropoietic anaemia GGCTGCGGCTGGAGATTCGCGCGCTCGGAC[G/A]AGCTGACCCGCCACTACCGGAAACACACGG ABST chr19 12995811 12995812 CM118479 - 1 DM? NULL KLF1 Borderline HbA2 level GCGGCTGGAGATTCGCGCGCTCGGACGAGC[T/G]GACCCGCCACTACCGGAAACACACGGGGCA 21821711 chr19 12995808 12995809 CM118508 - 1 DM? NULL KLF1 Borderline HbA2 level GCTGGAGATTCGCGCGCTCGGACGAGCTGA[C/G]CCGCCACTACCGGAAACACACGGGGCAGCG 21821711 chr19 12995805 12995806 CM083537 - 1 FP NULL KLF1 Blood group variant In(Lu) GGAGATTCGCGCGCTCGGACGAGCTGACCC[G/T]CCACTACCGGAAACACACGGGGCAGCGCCC 18487511 chr19 12995805 12995806 CM083536 - 1 FP rs140252918 KLF1 Blood group variant In(Lu) GGAGATTCGCGCGCTCGGACGAGCTGACCC[G/A]CCACTACCGGAAACACACGGGGCAGCGCCC 18487511 chr19 12995797 12995798 CM083535 - 1 FP NULL KLF1 Blood group variant In(Lu) GCGCGCTCGGACGAGCTGACCCGCCACTAC[C/G]GGAAACACACGGGGCAGCGCCCCTTCCGCT 18487511 chr19 12995794 12995795 CM112840 - 1 DM NULL KLF1 Hereditary persistence of foetal haemoglobin CGCTCGGACGAGCTGACCCGCCACTACCGG[A/C]AACACACGGGGCAGCGCCCCTTCCGCTGCC 21273267 chr19 12995787 12995788 CM121775 - 1 DM? NULL KLF1 Increased Hb F levels ACGAGCTGACCCGCCACTACCGGAAACACA[C/G]GGGGCAGCGCCCCTTCCGCTGCCAGCTCTG 22102705 chr19 12995787 12995788 CM121774 - 1 DM? NULL KLF1 Increased Hb F levels ACGAGCTGACCCGCCACTACCGGAAACACA[C/A]GGGGCAGCGCCCCTTCCGCTGCCAGCTCTG 22102705 chr19 12995717 12995718 CM130406 - 1 FP NULL KLF1 Blood group variant In(Lu) TTTTTCGCGCTCTGACCACCTGGCCTTGCA[C/A]ATGAAGCGCCACCTTTGAgccctgccctgg 23125034 ############################################################## chr19:12991834-12994861 DNASE2 1 chr19 12994254 12994679 11000 1 chr19 12992336 12992337 CR004774 - 3 FP NULL DNASE2 Reduced promoter activity CTCCAAAACGCAGCATCGCGTCTCGGGGGA[G/A]GAGTCTGTACCCTCGTGATGTCCCCGCCCC 10675544 chr19 12991919 12991920 CM1213135 - 1 FP rs112348773 DNASE2 Reduced activity TGCCAGCTCTTAGAGGGTCCGGGGAGGCGG[C/G]GCAGAGAGGGCTGCAGTACAAGTATCTGGA 23019102 ############################################################## chr19:11353800-11354017 DNM2 1 chr19 10828600 10828793 10000 3 chr19 11353955 11353958 CD116518 - 5 DM NULL DOCK6 Adams-Oliver syndrome CAGCTTCTCTGGCTTCCGTCCAGCCACGCT[AACT/-]GTCACAAACTTCTTTAAGCAGGTGTCCTAC 21820096 ############################################################## chr19:11199927-11201977 LDLR 1 chr19 10875060 10875347 10000 2 chr19 11200309 11200310 CS108890 + 2 DM rs17242759 LDLR Hypercholesterolaemia GCGGGGACTGCAGgtaaggcttgctccagg[C/A]gccagaataggttgagagggagcccccggg 19717150 chr19 11200293 11200294 CS022873 + 2 DM NULL LDLR Hypercholesterolaemia CTTGCTCCTCGCCGCGGCGGGGACTGCAGg[T/A]aaggcttgctccaggcgccagaataggttg 12436241 chr19 11200292 11200293 CS984591 + 2 DM NULL LDLR Hypercholesterolaemia CCTTGCTCCTCGCCGCGGCGGGGACTGCAG[G/A]taaggcttgctccaggcgccagaataggtt LSDB chr19 11200288 11200289 CD122024 + 5 DM NULL LDLR Hypercholesterolaemia GTCGCCTTGCTCCTCGCCGCGGCGGGGACT[G/-]CAGGTAAGGCTTGCTCCAGGCGCCAGAATA 22353362 chr19 11200282 11200283 CM022807 + 1 DM rs147509697 LDLR Hypercholesterolaemia TGGACCGTCGCCTTGCTCCTCGCCGCGGCG[G/A]GGACTGCAGgtaaggcttgctccaggcgcc 12436241 chr19 11200280 11200281 CM001210 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGACCGTCGCCTTGCTCCTCGCCGCGG[C/A]GGGGACTGCAGgtaaggcttgctccaggcg 10782930 chr19 11200271 11200272 CM094954 + 1 DM NULL LDLR Hypercholesterolaemia GGAAATTGCGCTGGACCGTCGCCTTGCTCC[T/C]CGCCGCGGCGGGGACTGCAGgtaaggcttg 19318025 chr19 11200268 11200269 CM023638 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGAAATTGCGCTGGACCGTCGCCTTGC[T/C]CCTCGCCGCGGCGGGGACTGCAGgtaaggc 12052488 chr19 11200265 11200266 CI056225 + 6 DM NULL LDLR Hypercholesterolaemia GGGCTGGAAATTGCGCTGGACCGTCGCCTT[-/T]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 15823276 chr19 11200265 11200266 CD127555 + 5 DM NULL LDLR Hypercholesterolaemia GGGGCTGGAAATTGCGCTGGACCGTCGCCT[T/-]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 22881376 chr19 11200260 11200261 CI094998 + 6 DM NULL LDLR Hypercholesterolaemia CCCTGGGGCTGGAAATTGCGCTGGACCGTC[-/CGTC]GCCTTGCTCCTCGCCGCGGCGGGGACTGCA 19318025 chr19 11200253 11200254 CM091466 + 1 DM NULL LDLR Hypercholesterolaemia gcATGGGGCCCTGGGGCTGGAAATTGCGCT[G/A]GACCGTCGCCTTGCTCCTCGCCGCGGCGGG 18718593 chr19 11200252 11200262 CD095458 + 5 DM NULL LDLR Hypercholesterolaemia AGCATGGGGCCCTGGGGCTGGAAATTGCGC[TGGACCGTCGC/-]CTTGCTCCTCGCCGCGGCGGGGACTGCAGG 19446849 chr19 11200252 11200253 CM981177 + 1 DM NULL LDLR Hypercholesterolaemia agcATGGGGCCCTGGGGCTGGAAATTGCGC[T/A]GGACCGTCGCCTTGCTCCTCGCCGCGGCGG 9660059 chr19 11200244 11200245 CD091489 + 5 DM NULL LDLR Hypercholesterolaemia AGGCTGCGAGCATGGGGCCCTGGGGCTGGA[AA/-]TTGCGCTGGACCGTCGCCTTGCTCCTCGCC 18718593 chr19 11200236 11200237 CM941040 + 1 DM NULL LDLR Hypercholesterolaemia cctggcagaggctgcgagcATGGGGCCCTG[G/A]GGCTGGAAATTGCGCTGGACCGTCGCCTTG 7903864 chr19 11200235 11200236 CM014583 + 1 DM rs201016593 LDLR Hypercholesterolaemia gcctggcagaggctgcgagcATGGGGCCCT[G/A]GGGCTGGAAATTGCGCTGGACCGTCGCCTT 1301956 chr19 11200233 11200234 CD920879 + 5 DM NULL LDLR Hypercholesterolaemia CTGCCTGGCAGAGGCTGCGAGCATGGGGCC[C/-]TGGGGCTGGAAATTGCGCTGGACCGTCGCC 1301956 chr19 11200230 11200231 CD973295 + 5 DM NULL LDLR Hypercholesterolaemia ACACTGCCTGGCAGAGGCTGCGAGCATGGG[G/-]CCCTGGGGCTGGAAATTGCGCTGGACCGTC 9259195 chr19 11200228 11200229 CM057550 + 1 DM NULL LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/A]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 16250003 chr19 11200228 11200229 CM020733 + 1 DM rs5931 LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/C]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 11933210 chr19 11200225 11200226 CM973628 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/C]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 11600564 chr19 11200225 11200226 CM970875 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/G]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 9237510 chr19 11200225 11200226 CM960929 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/T]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 8831933 chr19 11200220 11200221 CR055625 + 3 DM NULL LDLR Hypercholesterolaemia CCGGGTCGGGACACTGCCTGGCAGAGGCTG[C/T]GAGCATGGGGCCCTGGGGCTGGAAATTGCG 16250003 chr19 11200212 11200213 CR106756 + 3 DM rs376011618 LDLR Hypercholesterolaemia GTCGTGATCCGGGTCGGGACACTGCCTGGC[A/G]GAGGCTGCGAGCATGGGGCCCTGGGGCTGG 20828696 chr19 11200211 11200212 CR971948 + 3 DM NULL LDLR Hypercholesterolaemia GGTCGTGATCCGGGTCGGGACACTGCCTGG[C/A]AGAGGCTGCGAGCATGGGGCCCTGGGGCTG 9259195 chr19 11200202 11200203 CR042572 + 3 DM NULL LDLR Hypercholesterolaemia GACACAGCAGGTCGTGATCCGGGTCGGGAC[A/C]CTGCCTGGCAGAGGCTGCGAGCATGGGGCC 15241806 chr19 11200105 11200106 CR042573 + 3 DM NULL LDLR Hypercholesterolaemia ACTGCAAACTCCTCCCCCTGCTAGAAACCT[C/T]ACATTGAAATGCTGTAAATGACGTGGGCCC 15303010 chr19 11200104 11200105 CR0910348 + 3 DM? NULL LDLR Hypercholesterolaemia CACTGCAAACTCCTCCCCCTGCTAGAAACC[T/C]CACATTGAAATGCTGTAAATGACGTGGGCC 20236128 chr19 11200091 11200092 CR091488 + 3 DM NULL LDLR Hypercholesterolaemia TTGAAAATCACCCCACTGCAAACTCCTCCC[C/T]CTGCTAGAAACCTCACATTGAAATGCTGTA 18718593 chr19 11200090 11200091 CR920794 + 3 DM NULL LDLR Hypercholesterolaemia TTTGAAAATCACCCCACTGCAAACTCCTCC[C/G]CCTGCTAGAAACCTCACATTGAAATGCTGT 1301956 chr19 11200089 11200090 CR941557 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/T]CCCTGCTAGAAACCTCACATTGAAATGCTG 7937987 chr19 11200089 11200090 CR116859 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/G]CCCTGCTAGAAACCTCACATTGAAATGCTG 21538688 chr19 11200088 11200089 CR920795 + 3 DM NULL LDLR Hypercholesterolaemia CATTTGAAAATCACCCCACTGCAAACTCCT[C/T]CCCCTGCTAGAAACCTCACATTGAAATGCT 1301956 chr19 11200087 11200088 CR951555 + 3 DM NULL LDLR Hypercholesterolaemia ACATTTGAAAATCACCCCACTGCAAACTCC[T/C]CCCCCTGCTAGAAACCTCACATTGAAATGC 8589690 chr19 11200086 11200087 CR075255 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/G]TCCCCCTGCTAGAAACCTCACATTGAAATG 17625505 chr19 11200086 11200087 CR055626 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/A]TCCCCCTGCTAGAAACCTCACATTGAAATG 16250003 chr19 11200085 11200086 CR108071 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/T]CTCCCCCTGCTAGAAACCTCACATTGAAAT 20809525 chr19 11200085 11200086 CR094983 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/G]CTCCCCCTGCTAGAAACCTCACATTGAAAT 19318025 chr19 11200083 11200084 CR021774 + 3 DM NULL LDLR Hypercholesterolaemia GAAGACATTTGAAAATCACCCCACTGCAAA[C/T]TCCTCCCCCTGCTAGAAACCTCACATTGAA 11792717 chr19 11200079 11200080 CR973644 + 3 DM NULL LDLR Hypercholesterolaemia AGGTGAAGACATTTGAAAATCACCCCACTG[C/A]AAACTCCTCCCCCTGCTAGAAACCTCACAT 9259195 chr19 11200076 11200077 CR127029 + 3 DM NULL LDLR Hypercholesterolaemia GTGAGGTGAAGACATTTGAAAATCACCCCA[C/A]TGCAAACTCCTCCCCCTGCTAGAAACCTCA 22698793 chr19 11200073 11200074 CR992256 + 3 DM NULL LDLR Hypercholesterolaemia GCAGTGAGGTGAAGACATTTGAAAATCACC[C/T]CACTGCAAACTCCTCCCCCTGCTAGAAACC 10484771 chr19 11200072 11200073 CR042574 + 3 DM NULL LDLR Hypercholesterolaemia TGCAGTGAGGTGAAGACATTTGAAAATCAC[C/T]CCACTGCAAACTCCTCCCCCTGCTAGAAAC 15303010 chr19 11200069 11200070 CR045714 + 3 DM NULL LDLR Hypercholesterolaemia TCTTGCAGTGAGGTGAAGACATTTGAAAAT[C/T]ACCCCACTGCAAACTCCTCCCCCTGCTAGA 14974088 chr19 11200064 11200065 CR045713 + 3 DM NULL LDLR Hypercholesterolaemia CCTCCTCTTGCAGTGAGGTGAAGACATTTG[A/C]AAATCACCCCACTGCAAACTCCTCCCCCTG 15556094 chr19 11200037 11200038 CR055624 + 3 DM NULL LDLR Hypercholesterolaemia CCGATGTCACATCGGCCGTTCGAAACTCCT[C/T]CTCTTGCAGTGAGGTGAAGACATTTGAAAA 16250003 chr19 11200019 11200020 CR025999 + 3 DM NULL LDLR Hypercholesterolaemia GCTTCACGGGTTAAAAAGCCGATGTCACAT[C/T]GGCCGTTCGAAACTCCTCCTCTTGCAGTGA 12052488 chr19 11200010 11200011 CR127546 + 3 DM? NULL LDLR Hypercholesterolaemia GGAATCAGAGCTTCACGGGTTAAAAAGCCG[A/G]TGTCACATCGGCCGTTCGAAACTCCTCCTC 22881376 chr19 11200008 11200009 CR994775 + 3 FP rs17249141 LDLR Altered transcription TGGGAATCAGAGCTTCACGGGTTAAAAAGC[C/T]GATGTCACATCGGCCGTTCGAAACTCCTCC 10484771 chr19 11199998 11199999 CR1312418 + 3 DM? NULL LDLR Hypercholesterolaemia AGGACTGGAGTGGGAATCAGAGCTTCACGG[G/T]TTAAAAAGCCGATGTCACATCGGCCGTTCG 23680767 chr19 11199958 11199959 CR108072 + 3 DM NULL LDLR Hypercholesterolaemia ATACAACAAATCAAGTCGCCTGCCCTGGCG[A/G]CACTTTCGAAGGACTGGAGTGGGAATCAGA 20809525 chr19 11199957 11199958 CR034701 + 3 FP rs17249134 LDLR Altered transcription AATACAACAAATCAAGTCGCCTGCCCTGGC[G/T]ACACTTTCGAAGGACTGGAGTGGGAATCAG 12944120 ############################################################## chr19:11199537-11203271 LDLR 1 chr19 11202981 11203478 10000 4 chr19 11200309 11200310 CS108890 + 2 DM rs17242759 LDLR Hypercholesterolaemia GCGGGGACTGCAGgtaaggcttgctccagg[C/A]gccagaataggttgagagggagcccccggg 19717150 chr19 11200293 11200294 CS022873 + 2 DM NULL LDLR Hypercholesterolaemia CTTGCTCCTCGCCGCGGCGGGGACTGCAGg[T/A]aaggcttgctccaggcgccagaataggttg 12436241 chr19 11200292 11200293 CS984591 + 2 DM NULL LDLR Hypercholesterolaemia CCTTGCTCCTCGCCGCGGCGGGGACTGCAG[G/A]taaggcttgctccaggcgccagaataggtt LSDB chr19 11200288 11200289 CD122024 + 5 DM NULL LDLR Hypercholesterolaemia GTCGCCTTGCTCCTCGCCGCGGCGGGGACT[G/-]CAGGTAAGGCTTGCTCCAGGCGCCAGAATA 22353362 chr19 11200282 11200283 CM022807 + 1 DM rs147509697 LDLR Hypercholesterolaemia TGGACCGTCGCCTTGCTCCTCGCCGCGGCG[G/A]GGACTGCAGgtaaggcttgctccaggcgcc 12436241 chr19 11200280 11200281 CM001210 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGACCGTCGCCTTGCTCCTCGCCGCGG[C/A]GGGGACTGCAGgtaaggcttgctccaggcg 10782930 chr19 11200271 11200272 CM094954 + 1 DM NULL LDLR Hypercholesterolaemia GGAAATTGCGCTGGACCGTCGCCTTGCTCC[T/C]CGCCGCGGCGGGGACTGCAGgtaaggcttg 19318025 chr19 11200268 11200269 CM023638 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGAAATTGCGCTGGACCGTCGCCTTGC[T/C]CCTCGCCGCGGCGGGGACTGCAGgtaaggc 12052488 chr19 11200265 11200266 CI056225 + 6 DM NULL LDLR Hypercholesterolaemia GGGCTGGAAATTGCGCTGGACCGTCGCCTT[-/T]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 15823276 chr19 11200265 11200266 CD127555 + 5 DM NULL LDLR Hypercholesterolaemia GGGGCTGGAAATTGCGCTGGACCGTCGCCT[T/-]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 22881376 chr19 11200260 11200261 CI094998 + 6 DM NULL LDLR Hypercholesterolaemia CCCTGGGGCTGGAAATTGCGCTGGACCGTC[-/CGTC]GCCTTGCTCCTCGCCGCGGCGGGGACTGCA 19318025 chr19 11200253 11200254 CM091466 + 1 DM NULL LDLR Hypercholesterolaemia gcATGGGGCCCTGGGGCTGGAAATTGCGCT[G/A]GACCGTCGCCTTGCTCCTCGCCGCGGCGGG 18718593 chr19 11200252 11200262 CD095458 + 5 DM NULL LDLR Hypercholesterolaemia AGCATGGGGCCCTGGGGCTGGAAATTGCGC[TGGACCGTCGC/-]CTTGCTCCTCGCCGCGGCGGGGACTGCAGG 19446849 chr19 11200252 11200253 CM981177 + 1 DM NULL LDLR Hypercholesterolaemia agcATGGGGCCCTGGGGCTGGAAATTGCGC[T/A]GGACCGTCGCCTTGCTCCTCGCCGCGGCGG 9660059 chr19 11200244 11200245 CD091489 + 5 DM NULL LDLR Hypercholesterolaemia AGGCTGCGAGCATGGGGCCCTGGGGCTGGA[AA/-]TTGCGCTGGACCGTCGCCTTGCTCCTCGCC 18718593 chr19 11200236 11200237 CM941040 + 1 DM NULL LDLR Hypercholesterolaemia cctggcagaggctgcgagcATGGGGCCCTG[G/A]GGCTGGAAATTGCGCTGGACCGTCGCCTTG 7903864 chr19 11200235 11200236 CM014583 + 1 DM rs201016593 LDLR Hypercholesterolaemia gcctggcagaggctgcgagcATGGGGCCCT[G/A]GGGCTGGAAATTGCGCTGGACCGTCGCCTT 1301956 chr19 11200233 11200234 CD920879 + 5 DM NULL LDLR Hypercholesterolaemia CTGCCTGGCAGAGGCTGCGAGCATGGGGCC[C/-]TGGGGCTGGAAATTGCGCTGGACCGTCGCC 1301956 chr19 11200230 11200231 CD973295 + 5 DM NULL LDLR Hypercholesterolaemia ACACTGCCTGGCAGAGGCTGCGAGCATGGG[G/-]CCCTGGGGCTGGAAATTGCGCTGGACCGTC 9259195 chr19 11200228 11200229 CM057550 + 1 DM NULL LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/A]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 16250003 chr19 11200228 11200229 CM020733 + 1 DM rs5931 LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/C]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 11933210 chr19 11200225 11200226 CM973628 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/C]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 11600564 chr19 11200225 11200226 CM970875 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/G]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 9237510 chr19 11200225 11200226 CM960929 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/T]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 8831933 chr19 11200220 11200221 CR055625 + 3 DM NULL LDLR Hypercholesterolaemia CCGGGTCGGGACACTGCCTGGCAGAGGCTG[C/T]GAGCATGGGGCCCTGGGGCTGGAAATTGCG 16250003 chr19 11200212 11200213 CR106756 + 3 DM rs376011618 LDLR Hypercholesterolaemia GTCGTGATCCGGGTCGGGACACTGCCTGGC[A/G]GAGGCTGCGAGCATGGGGCCCTGGGGCTGG 20828696 chr19 11200211 11200212 CR971948 + 3 DM NULL LDLR Hypercholesterolaemia GGTCGTGATCCGGGTCGGGACACTGCCTGG[C/A]AGAGGCTGCGAGCATGGGGCCCTGGGGCTG 9259195 chr19 11200202 11200203 CR042572 + 3 DM NULL LDLR Hypercholesterolaemia GACACAGCAGGTCGTGATCCGGGTCGGGAC[A/C]CTGCCTGGCAGAGGCTGCGAGCATGGGGCC 15241806 chr19 11200105 11200106 CR042573 + 3 DM NULL LDLR Hypercholesterolaemia ACTGCAAACTCCTCCCCCTGCTAGAAACCT[C/T]ACATTGAAATGCTGTAAATGACGTGGGCCC 15303010 chr19 11200104 11200105 CR0910348 + 3 DM? NULL LDLR Hypercholesterolaemia CACTGCAAACTCCTCCCCCTGCTAGAAACC[T/C]CACATTGAAATGCTGTAAATGACGTGGGCC 20236128 chr19 11200091 11200092 CR091488 + 3 DM NULL LDLR Hypercholesterolaemia TTGAAAATCACCCCACTGCAAACTCCTCCC[C/T]CTGCTAGAAACCTCACATTGAAATGCTGTA 18718593 chr19 11200090 11200091 CR920794 + 3 DM NULL LDLR Hypercholesterolaemia TTTGAAAATCACCCCACTGCAAACTCCTCC[C/G]CCTGCTAGAAACCTCACATTGAAATGCTGT 1301956 chr19 11200089 11200090 CR941557 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/T]CCCTGCTAGAAACCTCACATTGAAATGCTG 7937987 chr19 11200089 11200090 CR116859 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/G]CCCTGCTAGAAACCTCACATTGAAATGCTG 21538688 chr19 11200088 11200089 CR920795 + 3 DM NULL LDLR Hypercholesterolaemia CATTTGAAAATCACCCCACTGCAAACTCCT[C/T]CCCCTGCTAGAAACCTCACATTGAAATGCT 1301956 chr19 11200087 11200088 CR951555 + 3 DM NULL LDLR Hypercholesterolaemia ACATTTGAAAATCACCCCACTGCAAACTCC[T/C]CCCCCTGCTAGAAACCTCACATTGAAATGC 8589690 chr19 11200086 11200087 CR075255 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/G]TCCCCCTGCTAGAAACCTCACATTGAAATG 17625505 chr19 11200086 11200087 CR055626 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/A]TCCCCCTGCTAGAAACCTCACATTGAAATG 16250003 chr19 11200085 11200086 CR108071 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/T]CTCCCCCTGCTAGAAACCTCACATTGAAAT 20809525 chr19 11200085 11200086 CR094983 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/G]CTCCCCCTGCTAGAAACCTCACATTGAAAT 19318025 chr19 11200083 11200084 CR021774 + 3 DM NULL LDLR Hypercholesterolaemia GAAGACATTTGAAAATCACCCCACTGCAAA[C/T]TCCTCCCCCTGCTAGAAACCTCACATTGAA 11792717 chr19 11200079 11200080 CR973644 + 3 DM NULL LDLR Hypercholesterolaemia AGGTGAAGACATTTGAAAATCACCCCACTG[C/A]AAACTCCTCCCCCTGCTAGAAACCTCACAT 9259195 chr19 11200076 11200077 CR127029 + 3 DM NULL LDLR Hypercholesterolaemia GTGAGGTGAAGACATTTGAAAATCACCCCA[C/A]TGCAAACTCCTCCCCCTGCTAGAAACCTCA 22698793 chr19 11200073 11200074 CR992256 + 3 DM NULL LDLR Hypercholesterolaemia GCAGTGAGGTGAAGACATTTGAAAATCACC[C/T]CACTGCAAACTCCTCCCCCTGCTAGAAACC 10484771 chr19 11200072 11200073 CR042574 + 3 DM NULL LDLR Hypercholesterolaemia TGCAGTGAGGTGAAGACATTTGAAAATCAC[C/T]CCACTGCAAACTCCTCCCCCTGCTAGAAAC 15303010 chr19 11200069 11200070 CR045714 + 3 DM NULL LDLR Hypercholesterolaemia TCTTGCAGTGAGGTGAAGACATTTGAAAAT[C/T]ACCCCACTGCAAACTCCTCCCCCTGCTAGA 14974088 chr19 11200064 11200065 CR045713 + 3 DM NULL LDLR Hypercholesterolaemia CCTCCTCTTGCAGTGAGGTGAAGACATTTG[A/C]AAATCACCCCACTGCAAACTCCTCCCCCTG 15556094 chr19 11200037 11200038 CR055624 + 3 DM NULL LDLR Hypercholesterolaemia CCGATGTCACATCGGCCGTTCGAAACTCCT[C/T]CTCTTGCAGTGAGGTGAAGACATTTGAAAA 16250003 chr19 11200019 11200020 CR025999 + 3 DM NULL LDLR Hypercholesterolaemia GCTTCACGGGTTAAAAAGCCGATGTCACAT[C/T]GGCCGTTCGAAACTCCTCCTCTTGCAGTGA 12052488 chr19 11200010 11200011 CR127546 + 3 DM? NULL LDLR Hypercholesterolaemia GGAATCAGAGCTTCACGGGTTAAAAAGCCG[A/G]TGTCACATCGGCCGTTCGAAACTCCTCCTC 22881376 chr19 11200008 11200009 CR994775 + 3 FP rs17249141 LDLR Altered transcription TGGGAATCAGAGCTTCACGGGTTAAAAAGC[C/T]GATGTCACATCGGCCGTTCGAAACTCCTCC 10484771 chr19 11199998 11199999 CR1312418 + 3 DM? NULL LDLR Hypercholesterolaemia AGGACTGGAGTGGGAATCAGAGCTTCACGG[G/T]TTAAAAAGCCGATGTCACATCGGCCGTTCG 23680767 chr19 11199958 11199959 CR108072 + 3 DM NULL LDLR Hypercholesterolaemia ATACAACAAATCAAGTCGCCTGCCCTGGCG[A/G]CACTTTCGAAGGACTGGAGTGGGAATCAGA 20809525 chr19 11199957 11199958 CR034701 + 3 FP rs17249134 LDLR Altered transcription AATACAACAAATCAAGTCGCCTGCCCTGGC[G/T]ACACTTTCGAAGGACTGGAGTGGGAATCAG 12944120 ############################################################## chr19:11199537-11202725 LDLR 1 chr19 11202981 11203137 10000 4 chr19 11200309 11200310 CS108890 + 2 DM rs17242759 LDLR Hypercholesterolaemia GCGGGGACTGCAGgtaaggcttgctccagg[C/A]gccagaataggttgagagggagcccccggg 19717150 chr19 11200293 11200294 CS022873 + 2 DM NULL LDLR Hypercholesterolaemia CTTGCTCCTCGCCGCGGCGGGGACTGCAGg[T/A]aaggcttgctccaggcgccagaataggttg 12436241 chr19 11200292 11200293 CS984591 + 2 DM NULL LDLR Hypercholesterolaemia CCTTGCTCCTCGCCGCGGCGGGGACTGCAG[G/A]taaggcttgctccaggcgccagaataggtt LSDB chr19 11200288 11200289 CD122024 + 5 DM NULL LDLR Hypercholesterolaemia GTCGCCTTGCTCCTCGCCGCGGCGGGGACT[G/-]CAGGTAAGGCTTGCTCCAGGCGCCAGAATA 22353362 chr19 11200282 11200283 CM022807 + 1 DM rs147509697 LDLR Hypercholesterolaemia TGGACCGTCGCCTTGCTCCTCGCCGCGGCG[G/A]GGACTGCAGgtaaggcttgctccaggcgcc 12436241 chr19 11200280 11200281 CM001210 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGACCGTCGCCTTGCTCCTCGCCGCGG[C/A]GGGGACTGCAGgtaaggcttgctccaggcg 10782930 chr19 11200271 11200272 CM094954 + 1 DM NULL LDLR Hypercholesterolaemia GGAAATTGCGCTGGACCGTCGCCTTGCTCC[T/C]CGCCGCGGCGGGGACTGCAGgtaaggcttg 19318025 chr19 11200268 11200269 CM023638 + 1 DM NULL LDLR Hypercholesterolaemia GCTGGAAATTGCGCTGGACCGTCGCCTTGC[T/C]CCTCGCCGCGGCGGGGACTGCAGgtaaggc 12052488 chr19 11200265 11200266 CI056225 + 6 DM NULL LDLR Hypercholesterolaemia GGGCTGGAAATTGCGCTGGACCGTCGCCTT[-/T]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 15823276 chr19 11200265 11200266 CD127555 + 5 DM NULL LDLR Hypercholesterolaemia GGGGCTGGAAATTGCGCTGGACCGTCGCCT[T/-]GCTCCTCGCCGCGGCGGGGACTGCAGGTAA 22881376 chr19 11200260 11200261 CI094998 + 6 DM NULL LDLR Hypercholesterolaemia CCCTGGGGCTGGAAATTGCGCTGGACCGTC[-/CGTC]GCCTTGCTCCTCGCCGCGGCGGGGACTGCA 19318025 chr19 11200253 11200254 CM091466 + 1 DM NULL LDLR Hypercholesterolaemia gcATGGGGCCCTGGGGCTGGAAATTGCGCT[G/A]GACCGTCGCCTTGCTCCTCGCCGCGGCGGG 18718593 chr19 11200252 11200262 CD095458 + 5 DM NULL LDLR Hypercholesterolaemia AGCATGGGGCCCTGGGGCTGGAAATTGCGC[TGGACCGTCGC/-]CTTGCTCCTCGCCGCGGCGGGGACTGCAGG 19446849 chr19 11200252 11200253 CM981177 + 1 DM NULL LDLR Hypercholesterolaemia agcATGGGGCCCTGGGGCTGGAAATTGCGC[T/A]GGACCGTCGCCTTGCTCCTCGCCGCGGCGG 9660059 chr19 11200244 11200245 CD091489 + 5 DM NULL LDLR Hypercholesterolaemia AGGCTGCGAGCATGGGGCCCTGGGGCTGGA[AA/-]TTGCGCTGGACCGTCGCCTTGCTCCTCGCC 18718593 chr19 11200236 11200237 CM941040 + 1 DM NULL LDLR Hypercholesterolaemia cctggcagaggctgcgagcATGGGGCCCTG[G/A]GGCTGGAAATTGCGCTGGACCGTCGCCTTG 7903864 chr19 11200235 11200236 CM014583 + 1 DM rs201016593 LDLR Hypercholesterolaemia gcctggcagaggctgcgagcATGGGGCCCT[G/A]GGGCTGGAAATTGCGCTGGACCGTCGCCTT 1301956 chr19 11200233 11200234 CD920879 + 5 DM NULL LDLR Hypercholesterolaemia CTGCCTGGCAGAGGCTGCGAGCATGGGGCC[C/-]TGGGGCTGGAAATTGCGCTGGACCGTCGCC 1301956 chr19 11200230 11200231 CD973295 + 5 DM NULL LDLR Hypercholesterolaemia ACACTGCCTGGCAGAGGCTGCGAGCATGGG[G/-]CCCTGGGGCTGGAAATTGCGCTGGACCGTC 9259195 chr19 11200228 11200229 CM057550 + 1 DM NULL LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/A]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 16250003 chr19 11200228 11200229 CM020733 + 1 DM rs5931 LDLR Hypercholesterolaemia ggacactgcctggcagaggctgcgagcATG[G/C]GGCCCTGGGGCTGGAAATTGCGCTGGACCG 11933210 chr19 11200225 11200226 CM973628 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/C]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 11600564 chr19 11200225 11200226 CM970875 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/G]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 9237510 chr19 11200225 11200226 CM960929 + 1 DM NULL LDLR Hypercholesterolaemia tcgggacactgcctggcagaggctgcgagc[A/T]TGGGGCCCTGGGGCTGGAAATTGCGCTGGA 8831933 chr19 11200220 11200221 CR055625 + 3 DM NULL LDLR Hypercholesterolaemia CCGGGTCGGGACACTGCCTGGCAGAGGCTG[C/T]GAGCATGGGGCCCTGGGGCTGGAAATTGCG 16250003 chr19 11200212 11200213 CR106756 + 3 DM rs376011618 LDLR Hypercholesterolaemia GTCGTGATCCGGGTCGGGACACTGCCTGGC[A/G]GAGGCTGCGAGCATGGGGCCCTGGGGCTGG 20828696 chr19 11200211 11200212 CR971948 + 3 DM NULL LDLR Hypercholesterolaemia GGTCGTGATCCGGGTCGGGACACTGCCTGG[C/A]AGAGGCTGCGAGCATGGGGCCCTGGGGCTG 9259195 chr19 11200202 11200203 CR042572 + 3 DM NULL LDLR Hypercholesterolaemia GACACAGCAGGTCGTGATCCGGGTCGGGAC[A/C]CTGCCTGGCAGAGGCTGCGAGCATGGGGCC 15241806 chr19 11200105 11200106 CR042573 + 3 DM NULL LDLR Hypercholesterolaemia ACTGCAAACTCCTCCCCCTGCTAGAAACCT[C/T]ACATTGAAATGCTGTAAATGACGTGGGCCC 15303010 chr19 11200104 11200105 CR0910348 + 3 DM? NULL LDLR Hypercholesterolaemia CACTGCAAACTCCTCCCCCTGCTAGAAACC[T/C]CACATTGAAATGCTGTAAATGACGTGGGCC 20236128 chr19 11200091 11200092 CR091488 + 3 DM NULL LDLR Hypercholesterolaemia TTGAAAATCACCCCACTGCAAACTCCTCCC[C/T]CTGCTAGAAACCTCACATTGAAATGCTGTA 18718593 chr19 11200090 11200091 CR920794 + 3 DM NULL LDLR Hypercholesterolaemia TTTGAAAATCACCCCACTGCAAACTCCTCC[C/G]CCTGCTAGAAACCTCACATTGAAATGCTGT 1301956 chr19 11200089 11200090 CR941557 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/T]CCCTGCTAGAAACCTCACATTGAAATGCTG 7937987 chr19 11200089 11200090 CR116859 + 3 DM NULL LDLR Hypercholesterolaemia ATTTGAAAATCACCCCACTGCAAACTCCTC[C/G]CCCTGCTAGAAACCTCACATTGAAATGCTG 21538688 chr19 11200088 11200089 CR920795 + 3 DM NULL LDLR Hypercholesterolaemia CATTTGAAAATCACCCCACTGCAAACTCCT[C/T]CCCCTGCTAGAAACCTCACATTGAAATGCT 1301956 chr19 11200087 11200088 CR951555 + 3 DM NULL LDLR Hypercholesterolaemia ACATTTGAAAATCACCCCACTGCAAACTCC[T/C]CCCCCTGCTAGAAACCTCACATTGAAATGC 8589690 chr19 11200086 11200087 CR075255 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/G]TCCCCCTGCTAGAAACCTCACATTGAAATG 17625505 chr19 11200086 11200087 CR055626 + 3 DM NULL LDLR Hypercholesterolaemia GACATTTGAAAATCACCCCACTGCAAACTC[C/A]TCCCCCTGCTAGAAACCTCACATTGAAATG 16250003 chr19 11200085 11200086 CR108071 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/T]CTCCCCCTGCTAGAAACCTCACATTGAAAT 20809525 chr19 11200085 11200086 CR094983 + 3 DM NULL LDLR Hypercholesterolaemia AGACATTTGAAAATCACCCCACTGCAAACT[C/G]CTCCCCCTGCTAGAAACCTCACATTGAAAT 19318025 chr19 11200083 11200084 CR021774 + 3 DM NULL LDLR Hypercholesterolaemia GAAGACATTTGAAAATCACCCCACTGCAAA[C/T]TCCTCCCCCTGCTAGAAACCTCACATTGAA 11792717 chr19 11200079 11200080 CR973644 + 3 DM NULL LDLR Hypercholesterolaemia AGGTGAAGACATTTGAAAATCACCCCACTG[C/A]AAACTCCTCCCCCTGCTAGAAACCTCACAT 9259195 chr19 11200076 11200077 CR127029 + 3 DM NULL LDLR Hypercholesterolaemia GTGAGGTGAAGACATTTGAAAATCACCCCA[C/A]TGCAAACTCCTCCCCCTGCTAGAAACCTCA 22698793 chr19 11200073 11200074 CR992256 + 3 DM NULL LDLR Hypercholesterolaemia GCAGTGAGGTGAAGACATTTGAAAATCACC[C/T]CACTGCAAACTCCTCCCCCTGCTAGAAACC 10484771 chr19 11200072 11200073 CR042574 + 3 DM NULL LDLR Hypercholesterolaemia TGCAGTGAGGTGAAGACATTTGAAAATCAC[C/T]CCACTGCAAACTCCTCCCCCTGCTAGAAAC 15303010 chr19 11200069 11200070 CR045714 + 3 DM NULL LDLR Hypercholesterolaemia TCTTGCAGTGAGGTGAAGACATTTGAAAAT[C/T]ACCCCACTGCAAACTCCTCCCCCTGCTAGA 14974088 chr19 11200064 11200065 CR045713 + 3 DM NULL LDLR Hypercholesterolaemia CCTCCTCTTGCAGTGAGGTGAAGACATTTG[A/C]AAATCACCCCACTGCAAACTCCTCCCCCTG 15556094 chr19 11200037 11200038 CR055624 + 3 DM NULL LDLR Hypercholesterolaemia CCGATGTCACATCGGCCGTTCGAAACTCCT[C/T]CTCTTGCAGTGAGGTGAAGACATTTGAAAA 16250003 chr19 11200019 11200020 CR025999 + 3 DM NULL LDLR Hypercholesterolaemia GCTTCACGGGTTAAAAAGCCGATGTCACAT[C/T]GGCCGTTCGAAACTCCTCCTCTTGCAGTGA 12052488 chr19 11200010 11200011 CR127546 + 3 DM? NULL LDLR Hypercholesterolaemia GGAATCAGAGCTTCACGGGTTAAAAAGCCG[A/G]TGTCACATCGGCCGTTCGAAACTCCTCCTC 22881376 chr19 11200008 11200009 CR994775 + 3 FP rs17249141 LDLR Altered transcription TGGGAATCAGAGCTTCACGGGTTAAAAAGC[C/T]GATGTCACATCGGCCGTTCGAAACTCCTCC 10484771 chr19 11199998 11199999 CR1312418 + 3 DM? NULL LDLR Hypercholesterolaemia AGGACTGGAGTGGGAATCAGAGCTTCACGG[G/T]TTAAAAAGCCGATGTCACATCGGCCGTTCG 23680767 chr19 11199958 11199959 CR108072 + 3 DM NULL LDLR Hypercholesterolaemia ATACAACAAATCAAGTCGCCTGCCCTGGCG[A/G]CACTTTCGAAGGACTGGAGTGGGAATCAGA 20809525 chr19 11199957 11199958 CR034701 + 3 FP rs17249134 LDLR Altered transcription AATACAACAAATCAAGTCGCCTGCCCTGGC[G/T]ACACTTTCGAAGGACTGGAGTGGGAATCAG 12944120 ############################################################## chr17:80796261-80798431 ZNF750 1 chr17 80796278 80796587 11101 2 chr17 80798245 80798246 CR084642 - 3 DM? rs191852873 ZNF750 Psoriasis: susceptibility to GCCTCCTGCGTACACATGCTCAAGTTCTAA[A/C]GGAAAGTCTCACATGTCTTTATCATGACGC 18256691 chr17 80798078 80798079 CR1110626 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to CACTCACAGACAGTTGAGTCTGGAGACAGC[G/A]CTGGGAGTCGGCGAGATAACTTGCTTGCTG 22185198 chr17 80797881 80797882 CR1110627 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to AACAGCAGGCTCCAGTTTCACCCAGCAAGC[G/A]TGAGAACAGGTACTGCTTCCTGAGCACCGC 22185198 chr17 80797853 80797854 CR1110628 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to GCGTGAGAACAGGTACTGCTTCCTGAGCAC[C/T]GCCAGCCACCGGCACCAAGACCGGCCACAT 22185198 chr17 80797852 80797853 CR1110629 - 3 DM? NULL ZNF750 Psoriasis: susceptibility to CGTGAGAACAGGTACTGCTTCCTGAGCACC[G/A]CCAGCCACCGGCACCAAGACCGGCCACATC 22185198 ############################################################## chr17:76355657-76357244 SOCS3 1 chr17 76356984 76357104 10101 1 chr17 76356096 76356097 CR043664 - 3 DP rs12953258 SOCS3 Increased whole-body insulin sensitivity: association with CCGCTTCGGCCCCGCACGCAGCCAGCCGCC[C/A]GCCGCCCGCCCGGCCCAGCTCCCGCCGCGG 15249995 ############################################################## chr17:76133754-76134199 SOCS3 1 chr17 76356984 76357104 10101 1 chr17 76133896 76133897 CS123370 + 2 DP rs16970849 TMC8 Cervical cancer: association with CTTCGCCTTCCTGGTCACCCTGCCTCGGAG[G/A]tgagccccggggtgacacctccagaagggc 21387292 ############################################################## chr17:73746242-73747400 SNHG16 1 chr17 74553014 74553849 11000 2 chr17 73747194 73747195 CI951945 + 6 DM NULL ITGB4 Epidermolysis bullosa TGCTATGGCCTGGTCAACGATGACAACCGT[-/T]AAGAACCAGATCCTTCTTTCCTGCCCACAG 7545057 chr17 73747193 73747194 CS971778 + 2 DM rs147222357 ITGB4 Epidermolysis bullosa with pyloric atresia TCTGCTATGGCCTGGTCAACGATGACAACC[G/A]taagaaccagatccttctttcctgcccaca 9194858 chr17 73747118 73747119 CM086837 + 1 DM NULL ITGB4 Epidermolysis bullosa with pyloric atresia TCGTCTCCTCCACGGTGACCCAGCTGAGCT[G/A]GGCTGAGCCGGCTGAGACCAACGGTGAGAT 18563182 chr17 73747108 73747109 CM136448 + 1 DM NULL ITGB4 Epidermolysis bullosa with pyloric atresia GCCTTCAATGTCGTCTCCTCCACGGTGACC[C/T]AGCTGAGCTGGGCTGAGCCGGCTGAGACCA 23496044 chr17 73747073 73747074 CM011794 + 1 DM rs121912468 ITGB4 Epidermolysis bullosa with pyloric atresia cccgctccctagTGCCCAGCGAGCCAGGGC[G/A]TCTGGCCTTCAATGTCGTCTCCTCCACGGT 11328943 chr17 73746309 73746310 CD972283 + 5 DM NULL ITGB4 Epidermolysis bullosa with pyloric atresia CTAAGGCCGCTGGGTCCAGGAAGATCCATT[T/-]CAACTGGCTGCCCCCTTCTGGCAAGCCAAT 9182827 ############################################################## chr17:73511017-73513276 CASKIN2 1 chr17 73955631 73955945 10000 2 chr17 73513153 73513154 CS110080 + 2 DM NULL TSEN54 Pontocerebellar hypoplasia AGAGGGCTTCGTGGAGTTGAAGTCTCCCGC[G/C]gtgagcggcgggctcggggaccggggaccg 20952379 chr17 73513145 73513146 CM085936 + 1 DM rs113994151 TSEN54 Pontocerebellar hypoplasia AGGCCAGAAGAGGGCTTCGTGGAGTTGAAG[T/C]CTCCCGCGgtgagcggcgggctcggggacc 18711368 chr17 73512649 73512650 CI130477 + 6 DM NULL TSEN54 Pontocerebellar hypoplasia 2 CGCAGCGGCAGGCGGCGGCGGGATGGAGCC[-/GGAGCC]CGAGCCCGAGCCCGCGGCCGTGGAGGTTCC 23307886 ############################################################## chr17:72744354-72747249 SLC9A3R1 1 chr17 71794400 71794782 11000 3 chr17 72745313 72745314 CM085716 + 1 DM? rs35910969 SLC9A3R1 Nephrolithiasis/bone demineralization CAGAAGCTCGGCGTCCAGGTCCGAGAGGAG[C/G]TGCTGCGCGCCCAGGAAGCGCCGGGGCAGG 18784102 chr17 72745188 72745189 CM122893 + 1 DM? rs139622189 SLC9A3R1 Renal lithiasis & decreased kidney phosphate reabsorption GGCTGGTGGAGGTGAACGGCGAAAACGTGG[A/C]GAAGGAGACCCACCAGCAGGTGGTGAGCCG 22506049 ############################################################## chr17:7124259-7124779 ACADVL 1 chr17 6603400 6603600 11101 3 chr17 7124376 7124377 CM990083 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency AGCTGGGTGGTGTGGGCCTTTGCAACACCC[A/G]Ggtgagggcgccctatcgccacatcccagt 9973285 chr17 7124373 7124374 CM960001 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency GTGAGCTGGGTGGTGTGGGCCTTTGCAACA[C/A]CCAGgtgagggcgccctatcgccacatccc 8739957 chr17 7124355 7124356 CM092552 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency TTGGTCTGCAAGTGCCCAGTGAGCTGGGTG[G/A]TGTGGGCCTTTGCAACACCCAGgtgagggc 19327992 chr17 7124333 7124334 CM990082 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency GGCCTCAAGGAGCTGGGGGCCTTTGGTCTG[C/T]AAGTGCCCAGTGAGCTGGGTGGTGTGGGCC 9973285 chr17 7124298 7124299 CM990081 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency ACGCTCTGGAGATGGTGGAGGAGACCACTT[G/A]GCAGGGCCTCAAGGAGCTGGGGGCCTTTGG 9973285 chr17 7124288 7124291 CD101572 + 5 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency GCCAAGAATGACGCTCTGGAGATGGTGGAG[GAGA/-]CCACTTGGCAGGGCCTCAAGGAGCTGGGGG 20060901 chr17 7124288 7124290 CD961741 + 5 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency GCCAAGAATGACGCTCTGGAGATGGTGGAG[GAG/-]ACCACTTGGCAGGGCCTCAAGGAGCTGGGG 8554073 chr17 7124264 7124265 CM101567 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency cttccccagGAAGTGAACGATCCCGCCAAG[A/G]ATGACGCTCTGGAGATGGTGGAGGAGACCA 20060901 ############################################################## chr17:66596594-66598301 FAM20A 1 chr17 66597581 66597616 11000 2 chr17 66596773 66596774 CD120329 - 5 DM NULL FAM20A Amelogenesis imperfecta & gingival hyperplasia syndrome CCGGGGCTGCGCCGGGACCGCCTACTGACT[CT/-]GCTGCTGCTGGGCGCGCTGCTCTCCGCCGA 21990045 ############################################################## chr17:63554432-63555351 AXIN2 1 chr17 63543381 63543618 11000 1 chr17 63554591 63554592 CM066739 - 1 DP rs2240308 AXIN2 Lung cancer: association with GTGGGCAAGGGCCAGGTCACCAAACCCATG[T/C]CTGTCTCTTCCAACACCAGGCGGAACGAAG 16820935 ############################################################## chr17:58677043-58678997 PPM1D 1 chr17 58678437 58678754 10100 1 chr17 58678082 58678083 CM137526 + 1 DM? NULL PPM1D Breast and/or ovarian cancer CGCCGCCGTTCCTCCGTGGCCTTTTTCGCC[G/A]TGTGCGACGGGCACGGCGGGCGGGAGGCGG 23649806 chr17 58677906 58677907 CM137525 + 1 DM? rs373862041 PPM1D Breast and/or ovarian cancer CGGCTGAAGAAAAGCCCTCGCCGCGGCGGT[C/G]GCTGTCTCAGCCGTTGCCTCCGCGGCCGTC 23649806 ############################################################## chr17:36103526-36105596 HNF1B 1 chr17 36103523 36103778 11110 1 chr17 36104873 36104874 CM104563 - 1 DM NULL HNF1B Multicystic kidney disease cacccccttctttttccgtccttggaaaAT[G/T]GTGTCCAAGCTCACGTCGCTCCAGCAAGAA 20378641 chr17 36104858 36104859 CD1310381 - 5 DM NULL HNF1B Hyperparathyroidism CCGTCCTTGGAAAATGGTGTCCAAGCTCAC[G/-]TCGCTCCAGCAAGAACTCCTGAGCGCCCTG 23979948 chr17 36104830 36104831 CD050474 - 5 DM NULL HNF1B Renal carcinoma ACGTCGCTCCAGCAAGAACTCCTGAGCGCC[C/-]TGCTGAGCTCCGGGGTCACCAAGGAGGTGC 15649945 chr17 36104769 36104770 CM020188 - 1 DM? NULL HNF1B Diabetes: MODY TGGTTCAGGCCTTGGAGGAGTTGCTGCCAT[C/T]CCCGAACTTCGGGGTGAAGCTGGAGACGCT 11845238 chr17 36104733 36104734 CD055733 - 5 DM NULL HNF1B Diabetes: MODY ACTTCGGGGTGAAGCTGGAGACGCTGCCCC[T/-]GTCCCCTGGCAGCGGGGCCGAGCCCGACAC 16249435 chr17 36104694 36104695 CM060492 - 1 DM rs147816724 HNF1B Diabetes: MODY GCAGCGGGGCCGAGCCCGACACCAAGCCGG[T/G]CTTCCATACTCTCACCAACGGCCACGCCAA 15930087 chr17 36104669 36104670 CD024193 - 5 DM NULL HNF1B GCKD with early-onset diabetes AGCCGGTCTTCCATACTCTCACCAACGGCC[AC/-]GCCAAGGGCCGCTTGTCCGGCGACGAGGGC 12460054 chr17 36104659 36104665 CD104573 - 5 DM NULL HNF1B Renal hypodysplasia GTCTTCCATACTCTCACCAACGGCCACGCC[AAGGGCC/-]GCTTGTCCGGCGACGAGGGCTCCGAGGACG 20378641 chr17 36104650 36104651 CM055551 - 1 DM rs144425830 HNF1B Diabetes: MODY ACCAACGGCCACGCCAAGGGCCGCTTGTCC[G/T]GCGACGAGGGCTCCGAGGACGGCGACGACT 16249435 chr17 36104644 36104645 CM104564 - 1 DM NULL HNF1B Multicystic kidney disease GGCCACGCCAAGGGCCGCTTGTCCGGCGAC[G/T]AGGGCTCCGAGGACGGCGACGACTATGACA 20378641 chr17 36104591 36104592 CI041965 - 6 DM NULL HNF1B Diabetes: MODY CTATGACACACCTCCCATCCTCAAGGAGCT[-/AGCT]GCAGGCGCTCAACACCGAGGAGGCGGCGGA 15168014 chr17 36104575 36104576 CM010457 - 1 DM rs121918671 HNF1B GCKD with early-onset diabetes ATCCTCAAGGAGCTGCAGGCGCTCAACACC[G/T]AGGAGGCGGCGGAGCAGCGGGCGGAGGTGG 11085914 chr17 36104554 36104555 CD104574 - 5 DM NULL HNF1B Hyperuricaemic nephropathy CTCAACACCGAGGAGGCGGCGGAGCAGCGG[G/-]CGGAGGTGGACCGGATGCTCAGGTAGGCGC 20378641 chr17 36104547 36104548 CM060493 - 1 DM NULL HNF1B Diabetes: MODY CCGAGGAGGCGGCGGAGCAGCGGGCGGAGG[T/G]GGACCGGATGCTCAGgtaggcgcagagcga 15930087 chr17 36104541 36104542 CM042485 - 1 DM NULL HNF1B Diabetes: MODY AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[G/C]GATGCTCAGgtaggcgcagagcgaggtgga 15068978 chr17 36104534 36104541 CD063625 - 5 DM NULL HNF1B Pancreas hypoplasia & multicystic renal dysplasia AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[GGATGCTC/-]AGGTAGGCGCAGAGCGAGGTGGAGGGGACC 16801329 ############################################################## chr17:36102737-36105596 HNF1B 1 chr17 36102882 36103062 11111 1 chr17 36104873 36104874 CM104563 - 1 DM NULL HNF1B Multicystic kidney disease cacccccttctttttccgtccttggaaaAT[G/T]GTGTCCAAGCTCACGTCGCTCCAGCAAGAA 20378641 chr17 36104858 36104859 CD1310381 - 5 DM NULL HNF1B Hyperparathyroidism CCGTCCTTGGAAAATGGTGTCCAAGCTCAC[G/-]TCGCTCCAGCAAGAACTCCTGAGCGCCCTG 23979948 chr17 36104830 36104831 CD050474 - 5 DM NULL HNF1B Renal carcinoma ACGTCGCTCCAGCAAGAACTCCTGAGCGCC[C/-]TGCTGAGCTCCGGGGTCACCAAGGAGGTGC 15649945 chr17 36104769 36104770 CM020188 - 1 DM? NULL HNF1B Diabetes: MODY TGGTTCAGGCCTTGGAGGAGTTGCTGCCAT[C/T]CCCGAACTTCGGGGTGAAGCTGGAGACGCT 11845238 chr17 36104733 36104734 CD055733 - 5 DM NULL HNF1B Diabetes: MODY ACTTCGGGGTGAAGCTGGAGACGCTGCCCC[T/-]GTCCCCTGGCAGCGGGGCCGAGCCCGACAC 16249435 chr17 36104694 36104695 CM060492 - 1 DM rs147816724 HNF1B Diabetes: MODY GCAGCGGGGCCGAGCCCGACACCAAGCCGG[T/G]CTTCCATACTCTCACCAACGGCCACGCCAA 15930087 chr17 36104669 36104670 CD024193 - 5 DM NULL HNF1B GCKD with early-onset diabetes AGCCGGTCTTCCATACTCTCACCAACGGCC[AC/-]GCCAAGGGCCGCTTGTCCGGCGACGAGGGC 12460054 chr17 36104659 36104665 CD104573 - 5 DM NULL HNF1B Renal hypodysplasia GTCTTCCATACTCTCACCAACGGCCACGCC[AAGGGCC/-]GCTTGTCCGGCGACGAGGGCTCCGAGGACG 20378641 chr17 36104650 36104651 CM055551 - 1 DM rs144425830 HNF1B Diabetes: MODY ACCAACGGCCACGCCAAGGGCCGCTTGTCC[G/T]GCGACGAGGGCTCCGAGGACGGCGACGACT 16249435 chr17 36104644 36104645 CM104564 - 1 DM NULL HNF1B Multicystic kidney disease GGCCACGCCAAGGGCCGCTTGTCCGGCGAC[G/T]AGGGCTCCGAGGACGGCGACGACTATGACA 20378641 chr17 36104591 36104592 CI041965 - 6 DM NULL HNF1B Diabetes: MODY CTATGACACACCTCCCATCCTCAAGGAGCT[-/AGCT]GCAGGCGCTCAACACCGAGGAGGCGGCGGA 15168014 chr17 36104575 36104576 CM010457 - 1 DM rs121918671 HNF1B GCKD with early-onset diabetes ATCCTCAAGGAGCTGCAGGCGCTCAACACC[G/T]AGGAGGCGGCGGAGCAGCGGGCGGAGGTGG 11085914 chr17 36104554 36104555 CD104574 - 5 DM NULL HNF1B Hyperuricaemic nephropathy CTCAACACCGAGGAGGCGGCGGAGCAGCGG[G/-]CGGAGGTGGACCGGATGCTCAGGTAGGCGC 20378641 chr17 36104547 36104548 CM060493 - 1 DM NULL HNF1B Diabetes: MODY CCGAGGAGGCGGCGGAGCAGCGGGCGGAGG[T/G]GGACCGGATGCTCAGgtaggcgcagagcga 15930087 chr17 36104541 36104542 CM042485 - 1 DM NULL HNF1B Diabetes: MODY AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[G/C]GATGCTCAGgtaggcgcagagcgaggtgga 15068978 chr17 36104534 36104541 CD063625 - 5 DM NULL HNF1B Pancreas hypoplasia & multicystic renal dysplasia AGGCGGCGGAGCAGCGGGCGGAGGTGGACC[GGATGCTC/-]AGGTAGGCGCAGAGCGAGGTGGAGGGGACC 16801329 ############################################################## chr16:89986518-89986667 TUBB3 1 chr16 89412072 89412460 10000 2 chr16 89986609 89986610 CM041797 + 1 DM? NULL MC1R Melanoma CTCCGCAGGACGCTCAAGGAGGTGCTGACA[T/C]GCTCCTGGTGAgcgcggtgcacgcggcttt 15221796 chr16 89986589 89986590 CM041796 + 1 DM? rs375127718 MC1R Melanoma ACGCCTTCCACAGCCAGGAGCTCCGCAGGA[C/T]GCTCAAGGAGGTGCTGACATGCTCCTGGTG 15221796 chr16 89986583 89986584 CM062830 + 1 DM rs368507952 MC1R Basal cell carcinoma TCATCTACGCCTTCCACAGCCAGGAGCTCC[G/A]CAGGACGCTCAAGGAGGTGCTGACATGCTC 16645598 chr16 89986547 89986548 CM1310954 + 1 DM? NULL MC1R Obesity TCGCCCTCATCATCTGCAATGCCATCATCG[A/C]CCCCCTCATCTACGCCTTCCACAGCCAGGA 24081230 chr16 89986546 89986547 CM950790 + 1 DFP rs1805009 MC1R UV-induced skin damage: vulnerability to CTCGCCCTCATCATCTGCAATGCCATCATC[G/C]ACCCCCTCATCTACGCCTTCCACAGCCAGG 7581459 chr16 89986531 89986532 CM092917 + 1 DM rs369542041 MC1R Melanoma AACTTCAACCTCTTTCTCGCCCTCATCATC[T/C]GCAATGCCATCATCGACCCCCTCATCTACG 19338054 chr16 89986527 89986528 CM1111331 + 1 DM rs373957223 MC1R Melanoma CAAGAACTTCAACCTCTTTCTCGCCCTCAT[C/G]ATCTGCAATGCCATCATCGACCCCCTCATC 21672182 ############################################################## chr16:89985929-89986278 TUBB3 1 chr16 89412072 89412460 10000 2 chr16 89986216 89986217 CM062829 + 1 DM? NULL MC1R Melanoma GTCTTCAGCACGCTCTTCATCGCCTACTAC[G/C]ACCACGTGGCCGTCCTGCTGTGCCTCGTGG 16809487 chr16 89986203 89986204 CI004927 + 6 DM NULL MC1R Red hair: increased risk GTGGCCAGTGTCGTCTTCAGCACGCTCTTC[-/C]ATCGCCTACTACGACCACGTGGCCGTCCTG 11030758 chr16 89986186 89986188 CD041917 + 5 DM? NULL MC1R Melanoma GCCGTTGCGGCCATCTGGGTGGCCAGTGTC[GTC/-]TTCAGCACGCTCTTCATCGCCTACTACGAC 15221796 chr16 89986181 89986182 CM062827 + 1 DM? rs376670171 MC1R Melanoma GGCGAGCCGTTGCGGCCATCTGGGTGGCCA[G/T]TGTCGTCTTCAGCACGCTCTTCATCGCCTA 16809487 chr16 89986178 89986179 CM020741 + 1 DM NULL MC1R Red hair: increased risk CGCGGCGAGCCGTTGCGGCCATCTGGGTGG[C/A]CAGTGTCGTCTTCAGCACGCTCTTCATCGC 11933208 chr16 89986162 89986163 CI093561 + 6 DM NULL MC1R Melanoma TGACCCTGCCGCGGGCGCGGCGAGCCGTTG[-/G]CGGCCATCTGGGTGGCCAGTGTCGTCTTCA 19269164 chr16 89986154 89986155 CM014731 + 1 DFP rs885479 MC1R Ephelides: increased risk: association with ACAGCATCGTGACCCTGCCGCGGGCGCGGC[G/A]AGCCGTTGCGGCCATCTGGGTGGCCAGTGT 11487574 chr16 89986145 89986146 CM041794 + 1 DM? NULL MC1R Melanoma TGCGCTACCACAGCATCGTGACCCTGCCGC[G/A]GGCGCGGCGAGCCGTTGCGGCCATCTGGGT 15221796 chr16 89986144 89986145 CM003595 + 1 DFP rs1805008 MC1R Red hair: increased risk CTGCGCTACCACAGCATCGTGACCCTGCCG[C/T]GGGCGCGGCGAGCCGTTGCGGCCATCTGGG 9665397 chr16 89986141 89986142 CM064116 + 1 FP rs104894523 MC1R Impaired activity GCACTGCGCTACCACAGCATCGTGACCCTG[C/A]CGCGGGCGCGGCGAGCCGTTGCGGCCATCT 16463023 chr16 89986136 89986137 CM064115 + 1 FP rs104894524 MC1R Impaired activity TCTACGCACTGCGCTACCACAGCATCGTGA[C/T]CCTGCCGCGGGCGCGGCGAGCCGTTGCGGC 16463023 chr16 89986130 89986131 CM005390 + 1 DM rs1110400 MC1R Red hair: increased risk CCATCTTCTACGCACTGCGCTACCACAGCA[T/C]CGTGACCCTGCCGCGGGCGCGGCGAGCCGT 11030758 chr16 89986122 89986123 CM020740 + 1 DM rs201326893 MC1R Red hair: increased risk CTACATCTCCATCTTCTACGCACTGCGCTA[C/A]CACAGCATCGTGACCCTGCCGCGGGCGCGG 11933208 chr16 89986117 89986118 CM981238 + 1 DFP rs1805007 MC1R UV-induced skin damage: vulnerability to GACCGCTACATCTCCATCTTCTACGCACTG[C/T]GCTACCACAGCATCGTGACCCTGCCGCGGG 9571181 chr16 89986111 89986112 CM062831 + 1 DM? rs374423188 MC1R Melanoma GCCGTGGACCGCTACATCTCCATCTTCTAC[G/A]CACTGCGCTACCACAGCATCGTGACCCTGC 16809487 chr16 89986106 89986108 CD064576 + 5 FP NULL MC1R Impaired activity CCATCGCCGTGGACCGCTACATCTCCATCT[TCT/-]ACGCACTGCGCTACCACAGCATCGTGACCC 16463023 chr16 89986091 89986092 CM994355 + 1 DFP rs11547464 MC1R Red hair: increased risk TCTGCTTCCTGGGCGCCATCGCCGTGGACC[G/A]CTACATCTCCATCTTCTACGCACTGCGCTA 10403794 chr16 89986090 89986091 CM131843 + 1 DM? NULL MC1R Melanoma CTCTGCTTCCTGGGCGCCATCGCCGTGGAC[C/A]GCTACATCTCCATCTTCTACGCACTGCGCT 23384855 chr16 89986078 89986079 CM1111329 + 1 DM NULL MC1R Melanoma ATGCTGTCCAGCCTCTGCTTCCTGGGCGCC[A/G]TCGCCGTGGACCGCTACATCTCCATCTTCT 21672182 chr16 89986049 89986050 CM074336 + 1 DM rs374235260 MC1R Melanoma ATGTCATTGACGTGATCACCTGCAGCTCCA[T/C]GCTGTCCAGCCTCTGCTTCCTGGGCGCCAT 17434924 chr16 89986030 89986031 CM015387 + 1 DM rs201192930 MC1R UV-induced skin damage: vulnerability to GTGCTGCAGCAGCTGGACAATGTCATTGAC[G/A]TGATCACCTGCAGCTCCATGCTGTCCAGCC 11707265 chr16 89986029 89986030 CM134696 + 1 FP rs200616835 MC1R Reduced cell surface expression GGTGCTGCAGCAGCTGGACAATGTCATTGA[C/G]GTGATCACCTGCAGCTCCATGCTGTCCAGC 23522749 chr16 89986025 89986026 CM1111328 + 1 DM rs33932559 MC1R Melanoma CTGCGGTGCTGCAGCAGCTGGACAATGTCA[T/C]TGACGTGATCACCTGCAGCTCCATGCTGTC 21672182 chr16 89985998 89985999 CM041793 + 1 DM? rs201489928 MC1R Melanoma TGGAGGCCGGTGCACTGGTGGCCCGGGCTG[C/T]GGTGCTGCAGCAGCTGGACAATGTCATTGA 15221796 chr16 89985976 89985977 CM062834 + 1 DM? rs2229617 MC1R Melanoma GAGACGGCCGTCATCCTCCTGCTGGAGGCC[G/A]GTGCACTGGTGGCCCGGGCTGCGGTGCTGC 16809487 chr16 89985950 89985951 CM062826 + 1 DM? rs34158934 MC1R Melanoma TGCTGGTGAGCGGGAGCAACGTGCTGGAGA[C/T]GGCCGTCATCCTCCTGCTGGAGGCCGGTGC 16809487 chr16 89985940 89985941 CM014730 + 1 DFP rs2228479 MC1R Ephelides: increased risk: association with TTGTCGGACCTGCTGGTGAGCGGGAGCAAC[G/A]TGCTGGAGACGGCCGTCATCCTCCTGCTGG 11487574 chr16 89985937 89985938 CM962715 + 1 DM? NULL MC1R Melanoma GCCTTGTCGGACCTGCTGGTGAGCGGGAGC[A/G]ACGTGCTGGAGACGGCCGTCATCCTCCTGC 8894704 chr16 89985931 89985932 CM134695 + 1 FP NULL MC1R Reduced cell surface expression TGCCTGGCCTTGTCGGACCTGCTGGTGAGC[G/C]GGAGCAACGTGCTGGAGACGGCCGTCATCC 23522749 ############################################################## chr16:68820532-68821000 THAP11 1 chr16 67876921 67877117 10100 1 chr16 68820946 68820947 CR121020 + 3 DP rs9929218 CDH1 Colorectal cancer: increased risk: association with GAATGATTCAAAGGTTCTGAATTCCACAAC[G/A]GCTTTCCTGTGTTTTTGCAGCCAGATTCAG 21761138 ############################################################## chr16:68820532-68821000 RNA5SP429 1 chr16 68778743 68778974 10001 3 chr16 68820946 68820947 CR121020 + 3 DP rs9929218 CDH1 Colorectal cancer: increased risk: association with GAATGATTCAAAGGTTCTGAATTCCACAAC[G/A]GCTTTCCTGTGTTTTTGCAGCCAGATTCAG 21761138 ############################################################## chr16:56901380-56902626 GPR97 1 chr16 57701344 57701574 10000 1 chr16 56902289 56902290 CS121309 + 2 DM NULL SLC12A3 Gitelman syndrome CTGGATTACGGCCCAGGCAGGCATCGgtga[G/A]tgcccctctggggaagaggagggagggctt 22009145 chr16 56902276 56902277 CM088284 + 1 DM NULL SLC12A3 Gitelman syndrome ACCTGCGGCTGCCCTGGATTACGGCCCAGG[C/T]AGGCATCGgtgagtgcccctctggggaaga 18391953 chr16 56902267 56902268 CM021327 + 1 DM rs267607050 SLC12A3 Gitelman syndrome TGATCCTCTACCTGCGGCTGCCCTGGATTA[C/T]GGCCCAGGCAGGCATCGgtgagtgcccctc 12112667 chr16 56902265 56902269 CX094474 + 4 DM NULL SLC12A3 Gitelman syndrome CGTGATCCTCTACCTGCGGCTGCCCTGGAT[TACGG/A]CCCAGGCAGGCATCGGTGAGTGCCCCTCTG 19207868 chr16 56902261 56902262 CM0911233 + 1 DM rs201190064 SLC12A3 Gitelman syndrome GGGGCGTGATCCTCTACCTGCGGCTGCCCT[G/A]GATTACGGCCCAGGCAGGCATCGgtgagtg 19349556 chr16 56902259 56902260 CI067585 + 6 DM NULL SLC12A3 Gitelman syndrome TGGGGCGTGATCCTCTACCTGCGGCTGCCC[-/C]TGGATTACGGCCCAGGCAGGCATCGGTGAG 17159356 chr16 56902252 56902253 CM121293 + 1 DM NULL SLC12A3 Gitelman syndrome TCAACATTTGGGGCGTGATCCTCTACCTGC[G/T]GCTGCCCTGGATTACGGCCCAGGCAGGCAT 22009145 chr16 56902252 56902253 CM021326 + 1 DM NULL SLC12A3 Gitelman syndrome TCAACATTTGGGGCGTGATCCTCTACCTGC[G/A]GCTGCCCTGGATTACGGCCCAGGCAGGCAT 12112667 chr16 56902249 56902250 CM121304 + 1 DM NULL SLC12A3 Gitelman syndrome TGCTCAACATTTGGGGCGTGATCCTCTACC[T/C]GCGGCTGCCCTGGATTACGGCCCAGGCAGG 22009145 chr16 56902242 56902243 CM081800 + 1 FP NULL SLC12A3 Reduced blood pressure CGTTGCATGCTCAACATTTGGGGCGTGATC[C/T]TCTACCTGCGGCTGCCCTGGATTACGGCCC 18391953 chr16 56902239 56902240 CM014393 + 1 DM NULL SLC12A3 Gitelman syndrome ATTCGTTGCATGCTCAACATTTGGGGCGTG[A/T]TCCTCTACCTGCGGCTGCCCTGGATTACGG 11168953 chr16 56902236 56902237 CM076522 + 1 DM NULL SLC12A3 Gitelman syndrome cagATTCGTTGCATGCTCAACATTTGGGGC[G/A]TGATCCTCTACCTGCGGCTGCCCTGGATTA 17654016 chr16 56902229 56902230 CM121305 + 1 DM rs143714318 SLC12A3 Gitelman syndrome gtcctcccagATTCGTTGCATGCTCAACAT[T/G]TGGGGCGTGATCCTCTACCTGCGGCTGCCC 22009145 chr16 56902222 56902223 CM117008 + 1 DM NULL SLC12A3 Gitelman syndrome cccccctgtcctcccagATTCGTTGCATGC[T/C]CAACATTTGGGGCGTGATCCTCTACCTGCG 21415153 chr16 56902216 56902217 CM094407 + 1 DM? NULL SLC12A3 Gitelman syndrome ctctgacccccctgtcctcccagATTCGTT[G/T]CATGCTCAACATTTGGGGCGTGATCCTCTA 19451210 chr16 56902213 56902214 CM076521 + 1 DM rs374324018 SLC12A3 Gitelman syndrome ggcctctgacccccctgtcctcccagATTC[G/A]TTGCATGCTCAACATTTGGGGCGTGATCCT 17654016 chr16 56902212 56902213 CM075012 + 1 DM rs148945966 SLC12A3 Gitelman syndrome tggcctctgacccccctgtcctcccagATT[C/T]GTTGCATGCTCAACATTTGGGGCGTGATCC 17329572 ############################################################## chr16:56641977-56645881 MT2A 1 chr16 56645370 56645865 11010 3 chr16 56642491 56642492 CR066330 + 3 DFP rs28366003 MT2A Cellular response to cadmium: association with TCTAGCTATAAACACTGCTTGCCGCGCTGC[A/G]CTCCACCACGCCTCCTCCAAGTCCCAGCGA 16927099 ############################################################## chr16:56641092-56642978 MT2A 1 chr16 56640754 56641415 11010 3 chr16 56642491 56642492 CR066330 + 3 DFP rs28366003 MT2A Cellular response to cadmium: association with TCTAGCTATAAACACTGCTTGCCGCGCTGC[A/G]CTCCACCACGCCTCCTCCAAGTCCCAGCGA 16927099 ############################################################## chr1:63785209-63789230 FOXD3 1 chr1 63785447 63785627 11100 1 chr1 63788091 63788092 CR052971 + 3 DFP rs41285370 FOXD3 Vitiligo: autosomal dominant: association with CCCCGGGGATGCTGGCGCACAGTGCGGAGC[G/T]GAGTTGCGCGTCTCTCGTCCCTTTGTTGAC 16098053 ############################################################## chr16:3306126-3310252 MEFV 1 chr16 3309927 3310094 10000 2 chr16 3307201 3307202 CR077766 - 3 DM? rs11466012 MEFV Mediterranean fever: familial ATGTGGCTGGAAGAACCAGTCAACTGGAAC[C/G]GGATCAACAGGGGTGATGGCATGGCAAGAG LSDB chr16 3306969 3306970 CR096503 - 3 FP NULL MEFV Increased activity TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/T]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG 19262573 chr16 3306969 3306970 CR077768 - 3 DM NULL MEFV Mediterranean fever: familial TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/G]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG LSDB chr16 3306917 3306918 CR077767 - 3 DM? rs11466013 MEFV Mediterranean fever: familial GGCAGGAAGGAAGATTGGAGGGGGTGTCTG[G/A]AATCCAATCCCAGACCTTCCCTTGCAGACT LSDB chr16 3306599 3306600 CR055627 - 3 DM rs104895148 MEFV Mediterranean fever: familial CAGAAGCCAGACAGCTGGCTCGAGCCTCTC[C/G]TGCTCAGCACCATGGCTAAGACCCCTAGTG LSDB chr16 3306563 3306564 CM055429 - 1 DM rs104895146 MEFV Mediterranean fever: familial agcaccATGGCTAAGACCCCTAGTGACCAT[C/T]TGCTGTCCACCCTGGAGGAGCTGGTGCCCT LSDB chr16 3306464 3306465 CM012149 - 1 DM rs61754767 MEFV Mediterranean fever: familial AGTGTGCAGAAGGAGCACTCCAGGATCCCC[C/T]GGAGCCAGATCCAGAGAGCCAGGCCGGTGA 11464238 chr16 3306338 3306339 CM085534 - 1 DM rs150819742 MEFV Mediterranean fever: familial CTGCGGGCCATCAACCAGCGCCTGCTGGCC[G/A]AGGAGCTCCACAGGGCAGCCATTCAGGgta 18328141 chr16 3306323 3306324 CM045302 - 1 DM rs104895124 MEFV Mediterranean fever: familial CAGCGCCTGCTGGCCGAGGAGCTCCACAGG[G/A]CAGCCATTCAGGgtaagcgggcccaggcct 14985395 ############################################################## chr16:3306126-3309535 MEFV 1 chr16 3309197 3309452 11010 2 chr16 3307201 3307202 CR077766 - 3 DM? rs11466012 MEFV Mediterranean fever: familial ATGTGGCTGGAAGAACCAGTCAACTGGAAC[C/G]GGATCAACAGGGGTGATGGCATGGCAAGAG LSDB chr16 3306969 3306970 CR096503 - 3 FP NULL MEFV Increased activity TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/T]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG 19262573 chr16 3306969 3306970 CR077768 - 3 DM NULL MEFV Mediterranean fever: familial TCAGCATAGTCCTCTCTGTTCCCACTCACC[C/G]GCTCTGCCAGCCCCAGATCCTGGCAGGAAG LSDB chr16 3306917 3306918 CR077767 - 3 DM? rs11466013 MEFV Mediterranean fever: familial GGCAGGAAGGAAGATTGGAGGGGGTGTCTG[G/A]AATCCAATCCCAGACCTTCCCTTGCAGACT LSDB chr16 3306599 3306600 CR055627 - 3 DM rs104895148 MEFV Mediterranean fever: familial CAGAAGCCAGACAGCTGGCTCGAGCCTCTC[C/G]TGCTCAGCACCATGGCTAAGACCCCTAGTG LSDB chr16 3306563 3306564 CM055429 - 1 DM rs104895146 MEFV Mediterranean fever: familial agcaccATGGCTAAGACCCCTAGTGACCAT[C/T]TGCTGTCCACCCTGGAGGAGCTGGTGCCCT LSDB chr16 3306464 3306465 CM012149 - 1 DM rs61754767 MEFV Mediterranean fever: familial AGTGTGCAGAAGGAGCACTCCAGGATCCCC[C/T]GGAGCCAGATCCAGAGAGCCAGGCCGGTGA 11464238 chr16 3306338 3306339 CM085534 - 1 DM rs150819742 MEFV Mediterranean fever: familial CTGCGGGCCATCAACCAGCGCCTGCTGGCC[G/A]AGGAGCTCCACAGGGCAGCCATTCAGGgta 18328141 chr16 3306323 3306324 CM045302 - 1 DM rs104895124 MEFV Mediterranean fever: familial CAGCGCCTGCTGGCCGAGGAGCTCCACAGG[G/A]CAGCCATTCAGGgtaagcgggcccaggcct 14985395 ############################################################## chr16:31104358-31105040 VKORC1 1 chr16 30453725 30454200 11101 2 chr16 31104878 31104879 CS050012 - 2 DP rs9934438 VKORC1 Warfarin resistance: association with aaaggtgcccggtgccaggagatcatcgac[C/T]cttggactaggatgggaggtcggggaacag 15358623 chr16 31104741 31104742 CM083793 - 1 DM NULL VKORC1 Coumarin resistance ggttccaccccaccccacccctctgccagG[T/C]GGGGCAGGGGTTTCGGGCTGGTGGAGCATG 18419745 chr16 31104740 31104741 CM110585 - 1 DM NULL VKORC1 Oral anticoagulant resistance gttccaccccaccccacccctctgccagGT[G/T]GGGCAGGGGTTTCGGGCTGGTGGAGCATGT 20946155 chr16 31104739 31104740 CM110586 - 1 DM NULL VKORC1 Oral anticoagulant resistance ttccaccccaccccacccctctgccagGTG[G/T]GGCAGGGGTTTCGGGCTGGTGGAGCATGTG 20946155 chr16 31104720 31104721 CM052941 - 1 DM rs72547529 VKORC1 Warfarin resistance tctgccagGTGGGGCAGGGGTTTCGGGCTG[G/A]TGGAGCATGTGCTGGGACAGGACAGCATCC 15630486 chr16 31104719 31104720 CM110587 - 1 DM NULL VKORC1 Oral anticoagulant resistance ctgccagGTGGGGCAGGGGTTTCGGGCTGG[T/G]GGAGCATGTGCTGGGACAGGACAGCATCCT 20946155 chr16 31104714 31104715 CM093403 - 1 DM? rs145273772 VKORC1 Oral anticoagulants resistance agGTGGGGCAGGGGTTTCGGGCTGGTGGAG[C/T]ATGTGCTGGGACAGGACAGCATCCTCAATC 19344422 chr16 31104704 31104705 CM110588 - 1 DM NULL VKORC1 Oral anticoagulant resistance GGGGTTTCGGGCTGGTGGAGCATGTGCTGG[G/C]ACAGGACAGCATCCTCAATCAATCCAACAG 20946155 chr16 31104687 31104688 CM110590 - 1 DM NULL VKORC1 Oral anticoagulant resistance GAGCATGTGCTGGGACAGGACAGCATCCTC[A/T]ATCAATCCAACAGCATATTCGGTTGCATCT 20946155 chr16 31104686 31104687 CM110589 - 1 DM NULL VKORC1 Oral anticoagulant resistance AGCATGTGCTGGGACAGGACAGCATCCTCA[A/G]TCAATCCAACAGCATATTCGGTTGCATCTT 20946155 chr16 31104509 31104510 CS064464 - 2 DP rs8050894 VKORC1 Warfarin resistance: association with acagctgacagccagctagctgctcatcac[G/C]gagcgtcctgcgggtggggatgtggggagg 16611750 ############################################################## chr16:11349538-11352932 SOCS1 1 chr16 11352748 11353134 11000 3 chr16 11350155 11350156 CR097876 - 3 DFP rs33977706 SOCS1 Reduced BMI: association with ACGCCACCGCGGAAAGAGAAACCAAAAGTG[G/T]AGCTGGGGGCGGGGCCGGCAGGGGGCGGGG 19215277 ############################################################## chr16:1128280-1132751 SSTR5 1 chr16 1132007 1132036 10000 1 chr16 1129872 1129873 CM1111107 + 1 FP rs169068 SSTR5 Increased cellular proliferation and PDX-1 overexpression CTGGTGCCAAGGACGCTGACGCCACGGAGC[C/T]GCGTCCAGACAGGATCCGGCAGCAGCAGGA 21249361 chr16 1129586 1129587 CM012660 + 1 DM rs121917877 SSTR5 Somatostatin analog resistance GCGGCGGGCGTGCGCGTGGGCTGCGTGCGG[C/T]GGCGCTCGGAGCGGAAGGTGACGCGCATGG 11502816 chr16 1129010 1129011 CM092595 + 1 DFP rs4988483 SSTR5 Bipolar affective disorder: association with GCCCGGGCGGTGCTGGTGCCCGTGCTGTAC[C/A]TGCTGGTGTGTGCGGCCGGGCTGGGCGGGA 12192619 ############################################################## chr1:59247914-59251010 JUN 1 chr1 59351200 59351326 11111 3 chr1 59250452 59250453 CR115660 - 3 DFP rs4646999 JUN Colorectal cancer: increased risk: association with GCGGACCGTCGCTCCTGAACTTGACCGAGA[T/C]GCAAACTTCGGAGTGTTCTCAACGTGGGGG 21393476 ############################################################## chr14:96000654-96001930 GLRX5 1 chr14 96979056 96979287 10000 1 chr14 96001720 96001721 CS078097 + 2 DM rs121908584 GLRX5 Pyridoxine-refractory sideroblastic anaemia CAACGTGCTGGACGACCCGGAGCTCCGACA[A/G]Ggtcaggccagtgtgccgggcaggcgccct 17485548 chr14 96001577 96001579 CD141139 + 5 DM NULL GLRX5 Hyperglycinaemia: non-ketotic TCGGCGGAGCAGTTGGACGCGCTGGTGAAG[AAG/-]GACAAGGTGGTGGTCTTCCTCAAGGGGACG 24334290 chr14 96001519 96001520 CI141140 + 6 DM NULL GLRX5 Hyperglycinaemia: non-ketotic GGTGGCCTTTGGGGTCCGGGCGTGCGGGCG[-/TGCGGGCG]GCGGGCTCGGGCGCGGGCGGCGGCGGCTCG 24334290 ############################################################## chr14:69258850-69261448 ZFP36L1 1 chr14 69406800 69406922 10000 1 chr14 69259599 69259600 CX035886 - 4 DM NULL ZFP36L1 Butyrate response factor 1 deficiency CCATCTTCGACTTGAGCGAAGTTTTATGCA[AG/GC]GTAAAGGGGGGCGGAGCATTTGCTTTTCAA 14604009 ############################################################## chr1:45296400-45298302 RNU5D-1 1 chr1 45197006 45197118 10101 1 chr1 45297968 45297969 CM083055 - 1 DM? rs80168454 PTCH2 Nevoid basal cell carcinoma syndrome GCCAGGAGCTGCATTACACCAAGGAGAAGC[T/C]GGGGGAGGAGGCTGCATACACCTCTCAGAT 18278130 ############################################################## chr14:51410097-51411748 PYGL 1 chr14 51410160 51410447 11010 2 chr14 51411084 51411085 CM078417 - 1 DM rs113993972 PYGL Glycogen storage disease 6 AGCCCCTGACGGACCAGGAGAAGCGGCGGC[A/C]GATCAGCATCCGCGGCATCGTGGGCGTGGA 17705025 ############################################################## chr14:50086988-50091206 MGAT2 1 chr14 50090965 50091075 10100 1 chr14 50089003 50089004 CM004653 + 1 DM rs104894449 MGAT2 Congenital disorder of glycosylation 2a GAAGCTGATCGAGTGCACAGACACTTTCTG[T/A]ACTTATGATGATTATAACTGGGACTGGACT 11228641 chr14 50088938 50088939 CM004652 + 1 DM rs104894448 MGAT2 Congenital disorder of glycosylation 2a GATGTGAAAACTTGGAAATCCACAGAGCAC[A/G]ATATGGGTCTAGCCTTGACCCGGAATGCCT 11228641 chr14 50088855 50088856 CM960961 + 1 DM rs104894446 MGAT2 Congenital disorder of glycosylation 2a AGCAAGAGTGCCCTGAATGTGATGTTCTCT[C/T]CCTGGGGACCTATAGTGCCAGTCGCAGTTT 8808595 chr14 50088771 50088772 CM960960 + 1 DM rs104894447 MGAT2 Congenital disorder of glycosylation 2a CTGGCCTTATACTTTTCCTAGAAGAGGATC[A/G]CTACTTAGCCCCAGACTTTTACCATGTCTT 8808595 chr14 50088697 50088698 CM1110310 + 1 DM NULL MGAT2 Congenital disorder of glycosylation 2a CTCCCAGACCAAACATCACTGGTGGTGGAA[G/C]CTGCATTTTGTGTGGGAAAGAGTGAAAATT 22105986 ############################################################## chr14:50086848-50091206 RPL36AL 1 chr14 50090965 50091075 10100 1 chr14 50089003 50089004 CM004653 + 1 DM rs104894449 MGAT2 Congenital disorder of glycosylation 2a GAAGCTGATCGAGTGCACAGACACTTTCTG[T/A]ACTTATGATGATTATAACTGGGACTGGACT 11228641 chr14 50088938 50088939 CM004652 + 1 DM rs104894448 MGAT2 Congenital disorder of glycosylation 2a GATGTGAAAACTTGGAAATCCACAGAGCAC[A/G]ATATGGGTCTAGCCTTGACCCGGAATGCCT 11228641 chr14 50088855 50088856 CM960961 + 1 DM rs104894446 MGAT2 Congenital disorder of glycosylation 2a AGCAAGAGTGCCCTGAATGTGATGTTCTCT[C/T]CCTGGGGACCTATAGTGCCAGTCGCAGTTT 8808595 chr14 50088771 50088772 CM960960 + 1 DM rs104894447 MGAT2 Congenital disorder of glycosylation 2a CTGGCCTTATACTTTTCCTAGAAGAGGATC[A/G]CTACTTAGCCCCAGACTTTTACCATGTCTT 8808595 chr14 50088697 50088698 CM1110310 + 1 DM NULL MGAT2 Congenital disorder of glycosylation 2a CTCCCAGACCAAACATCACTGGTGGTGGAA[G/C]CTGCATTTTGTGTGGGAAAGAGTGAAAATT 22105986 ############################################################## chr1:43996389-43997674 PTPRF 1 chr1 44007627 44008060 11100 2 chr1 43996420 43996421 CR041897 + 3 DP rs3001722 PTPRF Obesity: reduced risk: association with TTTCGACTTGGCGTTGGGTTGTGGCCTGTC[T/A]GGGCCTCAGCGGCTCCGCGGCTCTACGAGC 15150650 ############################################################## chr1:43996046-43998198 PTPRF 1 chr1 43997543 43997555 10110 1 chr1 43996420 43996421 CR041897 + 3 DP rs3001722 PTPRF Obesity: reduced risk: association with TTTCGACTTGGCGTTGGGTTGTGGCCTGTC[T/A]GGGCCTCAGCGGCTCCGCGGCTCTACGAGC 15150650 ############################################################## chr14:35869889-35874460 NFKBIA 1 chr14 35870054 35870240 11000 1 chr14 35874270 35874271 CR136345 - 3 DFP rs2233409 NFKBIA Airway hyperresponsiveness after viral infection: association with TCGATCGTGGGAAACCCCAGGGAAAGAAGG[C/T]TCACTTGCAGAGGGACAGGATTACAGGGTG 23487427 chr14 35873826 35873827 CM122767 - 1 DM NULL NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency cgcgccATGTTCCAGGCGGCCGAGCGCCCC[C/T]AGGAGTGGGCCATGGAGGGCCCCCGCGACG 22078572 chr14 35873819 35873820 CM076351 - 1 DM rs121913664 NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency TGTTCCAGGCGGCCGAGCGCCCCCAGGAGT[G/A]GGCCATGGAGGGCCCCCGCGACGGGCTGAA 17931563 chr14 35873811 35873812 CM082966 - 1 DM rs121913665 NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency GCGGCCGAGCGCCCCCAGGAGTGGGCCATG[G/T]AGGGCCCCCGCGACGGGCTGAAGAAGGAGC 18412279 chr14 35873756 35873757 CM033654 - 1 DM rs28933100 NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency AGGAGCGGCTACTGGACGACCGCCACGACA[G/T]CGGCCTGGACTCCATGAAAGACGAGGAGTA 14523047 chr14 35873744 35873745 CM137578 - 1 DM NULL NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency TGGACGACCGCCACGACAGCGGCCTGGACT[C/A]CATGAAAGACGAGGAGTACGAGCAGATGGT 23864385 chr14 35873741 35873742 CM134758 - 1 DM NULL NFKBIA Ectodermal dysplasia: with immunodeficiency ACGACCGCCACGACAGCGGCCTGGACTCCA[T/A]GAAAGACGAGGAGTACGAGCAGATGGTCAA 23708964 chr14 35873741 35873742 CM1313678 - 1 DM NULL NFKBIA Ectodermal dysplasia: anhidrotic with immune deficiency ACGACCGCCACGACAGCGGCCTGGACTCCA[T/G]GAAAGACGAGGAGTACGAGCAGATGGTCAA 23870671 chr14 35872466 35872467 CM056013 - 1 DM NULL NFKBIA Hodgkin lymphoma ATCCTGAGCTCCGAGACTTTCGAGGAAATA[C/T]CCCCCTACACCTTGCCTGTGAGCAGGGCTG 15858823 chr14 35871093 35871094 CR115062 - 3 DFP rs696 NFKBIA Colorectal cancer: increased risk: association with GTGTACTTATATCCACACTGCACACTGCCT[A/G]GCCCAAAACGTCTTATTGTGGTAGGATCAG 21738780 ############################################################## chr1:43423380-43425013 SLC2A1 1 chr1 44007627 44008060 11100 2 chr1 43424322 43424323 CM101696 - 1 DM NULL SLC2A1 Glucose transporter 1 deficiency syndrome cgcagccagagccaccagcgcagcgctgcc[A/G]TGGAGCCCAGCAGCAAGgtgagtcgcgcgc 20129935 chr1 43424320 43424321 CM101697 - 1 DM NULL SLC2A1 Glucose transporter 1 deficiency syndrome cagccagagccaccagcgcagcgctgccAT[G/A]GAGCCCAGCAGCAAGgtgagtcgcgcgccc 20129935 chr1 43424304 43424305 CS101712 - 2 DM NULL SLC2A1 Glucose transporter 1 deficiency syndrome CGCAGCGCTGCCATGGAGCCCAGCAGCAAG[G/C]tgagtcgcgcgcccgcgggccctcccgcca 20129935 chr1 43424304 43424305 CS002465 - 2 DM rs80359841 SLC2A1 Glucose transporter 1 deficiency syndrome CGCAGCGCTGCCATGGAGCCCAGCAGCAAG[G/A]tgagtcgcgcgcccgcgggccctcccgcca 10980529 ############################################################## chr13:113812794-113813140 PROZ 1 chr13 113365808 113366000 11000 1 chr13 113813005 113813006 CM125921 + 1 DM? rs148527063 PROZ Deep vein thrombosis ATGGCAGGCTGCGTCCCACTGCTCCAGGGC[C/G]TGGTCCTGGTCCTCGCCCTCCATCGTGTGG 22353194 chr13 113812962 113812963 CR057420 + 3 FP rs2273971 PROZ Reduced Protein Z concentration CTTTGGCTGTGTTTGTAGCCCTGTCCCAGC[A/G]CTCCGGGTGGGAATGGCAGGCTGCGTCCCA 15879328 ############################################################## chr13:113776874-113778355 F10 1 chr13 113365808 113366000 11000 1 chr13 113777242 113777243 CS021168 + 2 DM NULL F10 Factor X deficiency GCTGGCCTCCTGCTGCTCGGGGAAAGTCgt[A/T]agtgcccctcgcccttcagacccaaaagca 12028042 chr13 113777240 113777241 CS054887 + 2 DM NULL F10 Factor X deficiency TGGCTGGCCTCCTGCTGCTCGGGGAAAGTC[G/A]taagtgcccctcgcccttcagacccaaaag 15569527 chr13 113777230 113777231 CM910113 + 1 DM NULL F10 Factor X deficiency AGTGCCTCCCTGGCTGGCCTCCTGCTGCTC[G/A]GGGAAAGTCgtaagtgcccctcgcccttca 1939653 chr13 113777213 113777214 CM103624 + 1 DM NULL F10 Factor X deficiency TGCACCTCGTCCTGCTCAGTGCCTCCCTGG[C/A]TGGCCTCCTGCTGCTCGGGGAAAGTCgtaa 20331754 chr13 113777203 113777204 CM135363 + 1 DM NULL F10 Factor X deficiency GGGCGCCCACTGCACCTCGTCCTGCTCAGT[G/C]CCTCCCTGGCTGGCCTCCTGCTGCTCGGGG 23664564 chr13 113777203 113777204 CD044783 + 5 DM NULL F10 Factor X deficiency GGGCGCCCACTGCACCTCGTCCTGCTCAGT[GC/-]CTCCCTGGCTGGCCTCCTGCTGCTCGGGGA 15060750 chr13 113777202 113777203 CM014704 + 1 DM NULL F10 Factor X deficiency GGGGCGCCCACTGCACCTCGTCCTGCTCAG[T/G]GCCTCCCTGGCTGGCCTCCTGCTGCTCGGG 11758231 chr13 113777195 113777196 CM063971 + 1 DM NULL F10 Factor X deficiency acaccATGGGGCGCCCACTGCACCTCGTCC[T/C]GCTCAGTGCCTCCCTGGCTGGCCTCCTGCT 16919077 chr13 113777191 113777192 CM103623 + 1 DM NULL F10 Factor X deficiency ggccacaccATGGGGCGCCCACTGCACCTC[G/T]TCCTGCTCAGTGCCTCCCTGGCTGGCCTCC 20331754 chr13 113777188 113777189 CM025192 + 1 DM rs5963 F10 Factor X deficiency ctcggccacaccATGGGGCGCCCACTGCAC[C/A]TCGTCCTGCTCAGTGCCTCCCTGGCTGGCC 12010428 chr13 113777170 113777171 CM980647 + 1 DM NULL F10 Factor X deficiency gaggacagggacacagtactcggccacacc[A/G]TGGGGCGCCCACTGCACCTCGTCCTGCTCA 9799000 ############################################################## chr13:113759810-113760551 F7 1 chr13 113365808 113366000 11000 1 chr13 113760228 113760229 CS000454 + 2 DP rs6039 F7 Myocardial infarction: protection: association CTTCAGGGCTGCCTGGCTGCAGgtgcgtcc[G/A]gggaggttttctccataaacttggtggaag 10691850 chr13 113760227 113760228 CS099497 + 2 DM? rs10482844 F7 Factor VII deficiency GCTTCAGGGCTGCCTGGCTGCAGgtgcgtc[C/T]ggggaggttttctccataaacttggtggaa ABST chr13 113760225 113760226 CS099496 + 2 DM NULL F7 Factor VII deficiency GGGCTTCAGGGCTGCCTGGCTGCAGgtgcg[T/G]ccggggaggttttctccataaacttggtgg ABST chr13 113760224 113760225 CS002135 + 2 DM NULL F7 Factor VII deficiency TGGGCTTCAGGGCTGCCTGGCTGCAGgtgc[G/A]tccggggaggttttctccataaacttggtg 10959697 chr13 113760219 113760220 CM994049 + 1 DM rs376168927 F7 Factor VII deficiency CTGCTTGGGCTTCAGGGCTGCCTGGCTGCA[G/A]gtgcgtccggggaggttttctccataaact 11139238 chr13 113760211 113760212 CM001143 + 1 DM NULL F7 Factor VII deficiency TCTGCCTTCTGCTTGGGCTTCAGGGCTGCC[T/C]GGCTGCAGgtgcgtccggggaggttttctc 10862079 chr13 113760193 113760194 CM980663 + 1 DM NULL F7 Factor VII deficiency CCCAGGCCCTCAGGCTCCTCTGCCTTCTGC[T/C]TGGGCTTCAGGGCTGCCTGGCTGCAGgtgc 9576180 chr13 113760182 113760183 CD002694 + 5 DM NULL F7 Factor VII deficiency CATCATGGTCTCCCAGGCCCTCAGGCTCCT[CT/-]GCCTTCTGCTTGGGCTTCAGGGCTGCCTGG 11057862 chr13 113760171 113760172 CD073631 + 5 DM NULL F7 Factor VII deficiency TGCAGAGATTTCATCATGGTCTCCCAGGCC[C/-]TCAGGCTCCTCTGCCTTCTGCTTGGGCTTC 17606459 chr13 113760165 113760166 CM001144 + 1 DM NULL F7 Factor VII deficiency cagcactgcagagatttcatcATGGTCTCC[C/T]AGGCCCTCAGGCTCCTCTGCCTTCTGCTTG 10862079 chr13 113760158 113760159 CM002770 + 1 DM NULL F7 Factor VII deficiency gcaggggcagcactgcagagatttcatcAT[G/C]GTCTCCCAGGCCCTCAGGCTCCTCTGCCTT 11129332 chr13 113760156 113760157 CM010256 + 1 DM NULL F7 Factor VII deficiency aggcaggggcagcactgcagagatttcatc[A/G]TGGTCTCCCAGGCCCTCAGGCTCCTCTGCC 11313743 chr13 113760155 113760156 CR111315 + 3 DM NULL F7 Factor VII deficiency CAGGCAGGGGCAGCACTGCAGAGATTTCAT[C/T]ATGGTCTCCCAGGCCCTCAGGCTCCTCTGC 21206266 chr13 113760126 113760127 CR002894 + 3 DM NULL F7 Factor VII deficiency TTGCCCGTCAGTCCCATGGGGAATGTCAAC[A/C]GGCAGGGGCAGCACTGCAGAGATTTCATCA 11129332 chr13 113760124 113760125 CR032087 + 3 DM NULL F7 Factor VII deficiency CTTTGCCCGTCAGTCCCATGGGGAATGTCA[A/C]CAGGCAGGGGCAGCACTGCAGAGATTTCAT 12888866 chr13 113760117 113760118 CR090335 + 3 DM NULL F7 Factor VII deficiency CAGAGAACTTTGCCCGTCAGTCCCATGGGG[A/G]ATGTCAACAGGCAGGGGCAGCACTGCAGAG 18976247 chr13 113760112 113760113 CR090334 + 3 DM NULL F7 Factor VII deficiency GGAGGCAGAGAACTTTGCCCGTCAGTCCCA[T/C]GGGGAATGTCAACAGGCAGGGGCAGCACTG 18976247 chr13 113760101 113760102 CR090331 + 3 DM NULL F7 Factor VII deficiency CTGTCACCCTTGGAGGCAGAGAACTTTGCC[C/G]GTCAGTCCCATGGGGAATGTCAACAGGCAG 18976247 chr13 113760101 113760102 CR003081 + 3 DM NULL F7 Factor VII deficiency CTGTCACCCTTGGAGGCAGAGAACTTTGCC[C/T]GTCAGTCCCATGGGGAATGTCAACAGGCAG 11110717 chr13 113760099 113760100 CR1310869 + 3 DM NULL F7 Factor VII deficiency CTCTGTCACCCTTGGAGGCAGAGAACTTTG[C/T]CCGTCAGTCCCATGGGGAATGTCAACAGGC 23731332 chr13 113760097 113760098 CR032088 + 3 DM NULL F7 Factor VII deficiency CCCTCTGTCACCCTTGGAGGCAGAGAACTT[T/G]GCCCGTCAGTCCCATGGGGAATGTCAACAG 12888866 chr13 113760096 113760097 CR090330 + 3 DM NULL F7 Factor VII deficiency TCCCTCTGTCACCCTTGGAGGCAGAGAACT[T/G]TGCCCGTCAGTCCCATGGGGAATGTCAACA 18976247 chr13 113760096 113760097 CR010142 + 3 DM NULL F7 Factor VII deficiency TCCCTCTGTCACCCTTGGAGGCAGAGAACT[T/C]TGCCCGTCAGTCCCATGGGGAATGTCAACA 11139238 chr13 113760095 113760096 CR971941 + 3 DM NULL F7 Factor VII deficiency ATCCCTCTGTCACCCTTGGAGGCAGAGAAC[T/G]TTGCCCGTCAGTCCCATGGGGAATGTCAAC 8978290 chr13 113760094 113760095 CR090333 + 3 DM NULL F7 Factor VII deficiency CATCCCTCTGTCACCCTTGGAGGCAGAGAA[C/T]TTTGCCCGTCAGTCCCATGGGGAATGTCAA 18976247 chr13 113760091 113760092 CR090332 + 3 DM NULL F7 Factor VII deficiency CCCCATCCCTCTGTCACCCTTGGAGGCAGA[G/C]AACTTTGCCCGTCAGTCCCATGGGGAATGT 18976247 chr13 113760062 113760063 CR982413 + 3 DM NULL F7 Factor VII deficiency TGTTCAGAGGACGCCTGTGTCCTCCCCTCC[C/G]CCATCCCTCTGTCACCCTTGGAGGCAGAGA 9716591 chr13 113760060 113760061 CR023223 + 3 DM NULL F7 Factor VII deficiency GGTGTTCAGAGGACGCCTGTGTCCTCCCCT[C/T]CCCCATCCCTCTGTCACCCTTGGAGGCAGA 12472587 chr13 113760034 113760035 CR076699 + 3 FP rs561241 F7 Reduced promoter activity GCCGGCCAGGTGCAGCTCTCAGCTGGGGTG[T/C]TCAGAGGACGCCTGTGTCCTCCCCTCCCCC 17292373 chr13 113759849 113759850 CR063403 + 3 DM? NULL F7 Factor VII deficiency CCCAACTTACATTAGGGGTTTGGAATTCTA[G/A]ATCGTATTTGAAGTGTTGGTGCCACACACA 16732384 ############################################################## chr12:80083250-80085572 PAWR 1 chr12 80037724 80037892 10000 3 chr12 80083792 80083793 CM085047 - 1 DP rs8176805 PAWR Schizophrenia in females: association with AGCTCAACAACAACCTCCCGGGCGGCGCGC[C/G]GGCCGCACCTGCCGTCCCCGGTCCCGGGGG 18281137 ############################################################## chr1:27239130-27241425 NR0B2 1 chr1 27050221 27050363 11111 1 chr1 27240332 27240333 CM033797 - 1 DM? rs74315349 NR0B2 Obesity CTTCTGAGCTCCAGCCTCAAGGCTGTCCCC[C/G]GACCCCGTAGCCGCTGCCTATGTAGGCAGC 12716767 chr1 27240332 27240333 CM010942 - 1 DM rs74315349 NR0B2 Obesity CTTCTGAGCTCCAGCCTCAAGGCTGTCCCC[C/T]GACCCCGTAGCCGCTGCCTATGTAGGCAGC 11136233 chr1 27240326 27240327 CM033798 - 1 DM? NULL NR0B2 Obesity AGCTCCAGCCTCAAGGCTGTCCCCCGACCC[C/T]GTAGCCGCTGCCTATGTAGGCAGCACCGGC 12716767 chr1 27240319 27240320 CM104548 - 1 FP rs75738889 NR0B2 Impaired nuclear translocation GCCTCAAGGCTGTCCCCCGACCCCGTAGCC[G/A]CTGCCTATGTAGGCAGCACCGGCCCGTCCA 20516075 chr1 27240272 27240273 CM086883 - 1 DM rs113654931 NR0B2 Obesity CACCGGCCCGTCCAGCTATGTGCACCTCAT[C/T]GCACCTGCCGGGAGGCCTTGGATGTTCTGG 18781616 chr1 27240266 27240275 CD011173 - 5 DM NULL NR0B2 Obesity CAGCACCGGCCCGTCCAGCTATGTGCACCT[CATCGCACCT/-]GCCGGGAGGCCTTGGATGTTCTGGCCAAGA 11136233 chr1 27240263 27240264 CM013906 - 1 DM NULL NR0B2 Obesity GTCCAGCTATGTGCACCTCATCGCACCTGC[C/T]GGGAGGCCTTGGATGTTCTGGCCAAGACAG 11136233 chr1 27240154 27240155 CM043305 - 1 DM? NULL NR0B2 Obesity ACCAGCGGCGGCTGCTGCAGGGTTGCTGGG[G/A]CCCCCTCTTCCTGCTTGGGTTGGCCCAAGA 15459958 chr1 27240132 27240140 CX011254 - 4 DM NULL NR0B2 Obesity CTGCAGGGTTGCTGGGGCCCCCTCTTCCTG[CTTGGGTTG/AC]GCCCAAGATGCTGTGACCTTTGAGGTGGCT 11136233 chr1 27240118 27240119 CM086882 - 1 DM NULL NR0B2 Obesity TCTTCCTGCTTGGGTTGGCCCAAGATGCTG[T/G]GACCTTTGAGGTGGCTGAGGCCCCGGTGCC 18781616 chr1 27240016 27240017 CM043306 - 1 DM? NULL NR0B2 Obesity GTGGAGGCAGTGGCCAACTGCCAGACAGAC[C/A]CCAGCCCTCCCTGGCTGCGGTGCAGTGGCT 15459958 chr1 27239922 27239923 CM104550 - 1 FP rs78728223 NR0B2 Impaired nuclear translocation GCTTAGCCCCAAGGAATATGCCTGCCTGAA[A/T]GGGACCATCCTCTTCAACCCCGgtgagctc 20516075 chr1 27239920 27239921 CM033799 - 1 DFP rs6659176 NR0B2 Higher birth weight: association with TTAGCCCCAAGGAATATGCCTGCCTGAAAG[G/C]GACCATCCTCTTCAACCCCGgtgagctccc 12716767 ############################################################## chr1:27238170-27238572 NR0B2 1 chr1 27050221 27050363 11111 1 chr1 27238544 27238545 CM013907 - 1 DM rs202154574 NR0B2 Obesity TGCCAGGCCTCCAAGCCGCCTCCCACATTG[G/A]GCACCTGCAGCAGGAGGCTCACTGGGTGCT 11136233 chr1 27238527 27238528 CM010943 - 1 DM rs74315350 NR0B2 Obesity GCCTCCCACATTGGGCACCTGCAGCAGGAG[G/T]CTCACTGGGTGCTGTGTGAAGTCCTGGAAC 11136233 chr1 27238492 27238493 CM086884 - 1 DM NULL NR0B2 Obesity CTGGGTGCTGTGTGAAGTCCTGGAACCCTG[G/A]TGCCCAGCAGCCCAAGGCCGCCTGACCCGT 18781616 chr1 27238473 27238474 CM010944 - 1 DM rs199976415 NR0B2 Obesity CTGGAACCCTGGTGCCCAGCAGCCCAAGGC[C/T]GCCTGACCCGTGTCCTCCTCACGGCCTCCA 11136233 ############################################################## chr1:27022021-27025089 ARID1A 1 chr1 27024735 27024899 11111 1 chr1 27024007 27024008 CD1310751 + 5 DM NULL ARID1A Coffin-Siris syndrome CATGAGCCCCGGGAGCAGCGGCGGCGGGGG[G/-]CAGCCGCTCGCCCGGACCCCTCAGGTACAC 23929686 chr1 27023252 27023253 CM1311966 + 1 DM? NULL ARID1A Coffin-Siris syndrome AGGCCCGCCCTGAACAATAACCTCACGGAG[C/T]CGCCCGGCGGCGGCGGTGGCGGCAGCAGCG 23906836 ############################################################## chr12:57521781-57524070 LRP1 1 chr12 57523855 57524113 10111 1 chr12 57522257 57522258 CR022888 + 3 FP rs138854007 LRP1 Increased expression CCCGTCCCCTCCCTCTCCCCCATCAGCCCC[C/G]CCCTCGGCACTTCAGTCCGGGGAACAGCGG 12402342 ############################################################## chr12:53339251-53343343 KRT18 1 chr12 53339725 53339857 11000 3 chr12 53343340 53343341 CM970842 + 1 DM rs57758506 KRT18 Cryptogenic cirrhosis AGAAGGGACCCCAGGTCAGAGACTGGAGCC[A/T]TTACTTCAAGATCATCGAGGACCTGAGGGC 9011570 chr12 53343264 53343265 CM034541 + 1 DM? rs61136606 KRT18 Liver disease: susceptibility to TCTTACCTGGACAGAGTGAGGAGCCTGGAG[A/G]CCGAGAACCGGAGGCTGGAGAGCAAAATCC 12724528 chr12 53343163 53343164 CM109391 + 1 DM? NULL KRT18 Liver disease GGTCCGGGGGCCTGGCCACCGGGATAGCCG[G/C]GGGTCTGGCAGGAATGGGAGGCATCCAGAA 20538000 chr12 53343100 53343101 CM109390 + 1 DM? NULL KRT18 Liver disease GCGCTGGGGGCTCTGGTTCCCGGATCTCCG[T/C]GTCCCGCTCCACCAGCTTCAGGGGCGGCAT 20538000 ############################################################## chr12:53339251-53343155 KRT18 1 chr12 53339725 53339857 11000 3 chr12 53343100 53343101 CM109390 + 1 DM? NULL KRT18 Liver disease GCGCTGGGGGCTCTGGTTCCCGGATCTCCG[T/C]GTCCCGCTCCACCAGCTTCAGGGGCGGCAT 20538000 ############################################################## chr12:53298367-53302182 KRT8 1 chr12 53301910 53302208 10000 1 chr12 53298689 53298690 CM066895 - 1 DM rs57286292 KRT8 Fibrosis progression in hepatitis C infection GCCCCCGGGCCTTCAGCAGCCGCTCCTACA[C/G]GAGTGGGCCCGGTTCCCGCATCAGCTCCTC 16729313 chr12 53298608 53298609 CM034544 - 1 DM? rs61710484 KRT8 Liver disease: susceptibility to GCAGCAACTTTCGCGGTGGCCTGGGCGGCG[G/T]CTATGGTGGGGCCAGCGGCATGGGAGGCAT 12724528 chr12 53298606 53298607 CM011796 - 1 DM rs57749775 KRT8 Cryptogenic liver disease AGCAACTTTCGCGGTGGCCTGGGCGGCGGC[T/C]ATGGTGGGGCCAGCGGCATGGGAGGCATCA 11372009 chr12 53298602 53298603 CM066898 - 1 DM rs57282588 KRT8 Fibrosis progression in hepatitis C infection ACTTTCGCGGTGGCCTGGGCGGCGGCTATG[G/C]TGGGGCCAGCGGCATGGGAGGCATCACCGC 16729313 chr12 53298582 53298583 CM011797 - 1 DM? rs11554495 KRT8 Cryptogenic liver disease GGCGGCTATGGTGGGGCCAGCGGCATGGGA[G/T]GCATCACCGCAGTTACGGTCAACCAGAGCC 11372009 chr12 53298579 53298580 CM044656 - 1 DM rs59536457 KRT8 Inflammatory bowel disease GGCTATGGTGGGGCCAGCGGCATGGGAGGC[A/G]TCACCGCAGTTACGGTCAACCAGAGCCTGC 15090596 chr12 53298573 53298574 CM1210283 - 1 DM NULL KRT8 Cryptogenic liver disease GGTGGGGCCAGCGGCATGGGAGGCATCACC[G/A]CAGTTACGGTCAACCAGAGCCTGCTGAGCC 22419260 chr12 53298570 53298571 CM1210282 - 1 DM NULL KRT8 Cryptogenic liver disease GGGGCCAGCGGCATGGGAGGCATCACCGCA[G/A]TTACGGTCAACCAGAGCCTGCTGAGCCCCC 22419260 chr12 53298504 53298505 CM1210284 - 1 DM NULL KRT8 Cryptogenic liver disease CTGGAGGTGGACCCCAACATCCAGGCCGTG[C/T]GCACCCAGGAGAAGGAGCAGATCAAGACCC 22419260 ############################################################## chr1:24018071-24018885 RPL11 1 chr1 24136446 24136557 10000 1 chr1 24018321 24018322 CS086171 + 2 DM NULL RPL11 Diamond-Blackfan anaemia GCTTTCTCTTCCTGCTCTCCATCATGGCGg[T/C]gagtagctgggacctggatttgctttcctt 19061985 ############################################################## chr12:33048562-33050280 PKP2 1 chr12 33048709 33048930 11101 2 chr12 33049590 33049591 CM061172 - 1 DM rs143004808 PKP2 Arrhythmogenic right ventricular dysplasia GTCCTGGGCCAGCAGATCCTGGGACAACTG[G/A]ACAGCTCCAGCCTGGCGCTGCCCTCCGAGG 16567567 chr12 33049582 33049583 CD115349 - 5 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy CCAGCAGATCCTGGGACAACTGGACAGCTC[C/-]AGCCTGGCGCTGCCCTCCGAGGCCAAGCTG 21723241 chr12 33049515 33049518 CD043192 - 5 DM NULL PKP2 Arrhythmogenic right ventricular dysplasia CTGGCGGGGAGCAGCGGCCGCGGCGGCCAG[ACAG/-]TCAAGAGCCTGCGGATCCAGGAGCAGGTGC 15489853 chr12 33049510 33049511 CM091987 - 1 DM rs201210997 PKP2 Arrhythmogenic right ventricular cardiomyopathy GAGCAGCGGCCGCGGCGGCCAGACAGTCAA[G/A]AGCCTGCGGATCCAGGAGCAGGTGCAGCAG 19302745 chr12 33049491 33049492 CM1313041 - 1 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy CAGACAGTCAAGAGCCTGCGGATCCAGGAG[C/T]AGGTGCAGCAGACCCTCGCCCGGAAGGGCC 24070718 chr12 33049490 33049491 CM085057 - 1 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy AGACAGTCAAGAGCCTGCGGATCCAGGAGC[A/T]GGTGCAGCAGACCCTCGCCCGGAAGGGCCG 17521752 chr12 33049482 33049483 CM061171 - 1 DM rs199601548 PKP2 Arrhythmogenic right ventricular dysplasia AAGAGCCTGCGGATCCAGGAGCAGGTGCAG[C/A]AGACCCTCGCCCGGAAGGGCCGCAGCTCCG 16567567 chr12 33049481 33049482 CD115350 - 5 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy AAGAGCCTGCGGATCCAGGAGCAGGTGCAG[CA/-]GACCCTCGCCCGGAAGGGCCGCAGCTCCGT 21723241 chr12 33049475 33049476 CI119144 - 6 DM NULL PKP2 Arrhythmogenic right ventricular cardiomyopathy TGCGGATCCAGGAGCAGGTGCAGCAGACCC[-/C]TCGCCCGGAAGGGCCGCAGCTCCGTGGGCA 22019812 chr12 33049447 33049448 CI043219 - 6 DM NULL PKP2 Arrhythmogenic right ventricular dysplasia CCTCGCCCGGAAGGGCCGCAGCTCCGTGGG[-/G]CAACGGTGAGTGGAGCCCGCCGCTCCCCGG 15489853 chr12 33049442 33049443 CS102832 - 2 DM NULL PKP2 Arrhythmogenic right ventricular dysplasia/cardiomyopathy CCCGGAAGGGCCGCAGCTCCGTGGGCAACG[G/A]tgagtggagcccgccgctccccggcgccgc 20400443 ############################################################## chr1:231557383-231558630 EGLN1 1 chr1 230838780 230839025 10010 1 chr1 231557623 231557624 CM134523 - 1 DP rs186996510 EGLN1 Reduced haemoglobin levels: association with cgccgccgccgccgccgccATGGCCAATGA[C/G]AGCGGCGGGCCCGGCGGGCCGAGCCCGAGC 23666208 ############################################################## chr1:231556687-231557195 EGLN1 1 chr1 230838780 230839025 10010 1 chr1 231557164 231557165 CM112603 - 1 DM? rs61750991 EGLN1 Polycythaemia vera GGAGCCGCCGGCCCGCTCATCGCTGTTCCA[G/C]GAGAAGGCGAACCTGTACCCCCCAAGCAAC 21275967 chr1 231557142 231557143 CM141195 - 1 DM NULL EGLN1 Erythrocytosis CTGTTCCAGGAGAAGGCGAACCTGTACCCC[C/T]CAAGCAACACGCCCGGGGATGCGCTGAGCC 24482100 chr1 231557036 231557037 CM1213242 - 1 DM? NULL EGLN1 Polycythaemia CGCTGAAGCTGGCGCTCGAGTACATCGTGC[C/A]GTGCATGAACAAGCACGGCATCTGTGTGGT 21933857 chr1 231557029 231557030 CD080824 - 5 DM NULL EGLN1 Erythrocytosis GCTGGCGCTCGAGTACATCGTGCCGTGCAT[G/-]AACAAGCACGGCATCTGTGTGGTGGACGAC 17933562 chr1 231557026 231557027 CM120045 - 1 DM NULL EGLN1 Erythrocytosis GGCGCTCGAGTACATCGTGCCGTGCATGAA[C/G]AAGCACGGCATCTGTGTGGTGGACGACTTC 21828119 chr1 231557025 231557026 CM140743 - 1 DM NULL EGLN1 Erythrocytosis GCGCTCGAGTACATCGTGCCGTGCATGAAC[A/G]AGCACGGCATCTGTGTGGTGGACGACTTCC 24115288 chr1 231556875 231556876 CM120054 - 1 DM NULL EGLN1 Polycythaemia AAGAGTGACTCGTCCAAGGACATCCGAGGC[G/C]ATAAGATCACCTGGATCGAGGGCAAGGAGC 21933857 chr1 231556794 231556795 CI080933 - 6 DM NULL EGLN1 Erythrocytosis CTGCTCATGAGCAGCATGGACGACCTGATA[-/A]CGCCACTGTAACGGGAAGCTGGGCAGCTAC 17933562 chr1 231556787 231556800 CD141455 - 5 DM NULL EGLN1 Erythrocytosis ATTGGGCTGCTCATGAGCAGCATGGACGAC[CTGATACGCCACTG/-]TAACGGGAAGCTGGGCAGCTACAAAATCAA 24482100 chr1 231556782 231556783 CM140744 - 1 DM NULL EGLN1 Erythrocytosis AGCATGGACGACCTGATACGCCACTGTAAC[G/C]GGAAGCTGGGCAGCTACAAAATCAATGGCC 24115288 chr1 231556763 231556764 CM120046 - 1 DM NULL EGLN1 Erythrocytosis GCCACTGTAACGGGAAGCTGGGCAGCTACA[A/T]AATCAATGGCCGGACGAAAgtaagtgtgtg 21828119 ############################################################## chr1:230849326-230850602 AGT 1 chr1 230838780 230839025 10010 1 chr1 230850398 230850399 CR025943 - 3 DP rs5046 AGT Increased angiotensinogen levels: association with GAAGGCACTTTTCACTTGCTTGTGTGTTTT[C/T]CCCAGTGTCTATTAGAGGCCTTTGCACAGG 12404103 chr1 230850083 230850084 CR023696 - 3 DFP rs5049 AGT Hypertension: association with TTCGGTAAATGTGTAACTCGACCCTGCACC[A/G]GCTCACTCTGTTCAGCAGTGAAACTCTGCA 12145290 chr1 230849886 230849887 CR973338 - 3 DFP rs5050 AGT Hypertension: association with CCATCCCCACCCCTCAGCTATAAATAGGGC[A/C]TCGTGACCCGGCCGGGGGAAGAAGCTGCCG 9403548 chr1 230849884 230849885 CR971936 - 3 DP rs1800585 AGT Hypertension: association with ATCCCCACCCCTCAGCTATAAATAGGGCAT[C/T]GTGACCCGGCCGGGGGAAGAAGCTGCCGTT 9314411 chr1 230849872 230849873 CR971935 - 3 DFP rs5051 AGT Hypertension: association with CAGCTATAAATAGGGCATCGTGACCCGGCC[G/A]GGGGAAGAAGCTGCCGTTGTTCTGGGTACT 9120024 ############################################################## chr1:230837600-230839200 SPRTN 1 chr1 231473598 231473856 11010 1 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 ############################################################## chr1:230837600-230839200 EGLN1 1 chr1 231556687 231556856 11010 1 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 ############################################################## chr1:230837600-230839200 COG2 1 chr1 230778114 230778576 11000 2 chr1 230839055 230839056 CD065661 - 5 DM NULL AGT Renal tubular dysgenesis TGCTTTGCAGGTGCTGAACAGCATTTTTTT[T/-]GAGCTTGAAGCGGATGAGAGAGAGCCCACA 17036344 chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 ############################################################## chr1:2159633-2162861 SKI 1 chr1 2163135 2163296 10000 1 chr1 2160554 2160555 CM129802 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GGCGAGACCATCTCGTGCTTCGTGGTGGGA[G/C]GCGAGAAGCGCCTGTGTCTGCCGCAGATTC 23023332 chr1 2160552 2160553 CM129800 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm AAGGCGAGACCATCTCGTGCTTCGTGGTGG[G/A]AGGCGAGAAGCGCCTGTGTCTGCCGCAGAT 23023332 chr1 2160488 2160496 CD129808 + 5 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GTGCTGCCCGGGCCCTTCTTCATGCCGTCC[GACCGCTCC/-]ACCGAGCGCTGCGAGACCGTACTGGAAGGC 23023332 chr1 2160309 2160310 CM1210253 + 1 DM NULL SKI Shprintzen-Goldberg syndrome ACCTGAGCTCCATGAGCTCGCTGGGCGGCC[C/A]GGCCGCTTTCTCGGCGCGCTGGGCGCAGGA 23103230 chr1 2160308 2160309 CM129805 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm CACCTGAGCTCCATGAGCTCGCTGGGCGGC[C/T]CGGCCGCTTTCTCGGCGCGCTGGGCGCAGG 23023332 chr1 2160306 2160307 CM129804 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TCCACCTGAGCTCCATGAGCTCGCTGGGCG[G/A]CCCGGCCGCTTTCTCGGCGCGCTGGGCGCA 23023332 chr1 2160306 2160307 CM1210252 + 1 DM NULL SKI Shprintzen-Goldberg syndrome TCCACCTGAGCTCCATGAGCTCGCTGGGCG[G/T]CCCGGCCGCTTTCTCGGCGCGCTGGGCGCA 23103230 chr1 2160305 2160306 CM129803 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TTCCACCTGAGCTCCATGAGCTCGCTGGGC[G/T]GCCCGGCCGCTTTCTCGGCGCGCTGGGCGC 23023332 chr1 2160305 2160306 CM129801 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TTCCACCTGAGCTCCATGAGCTCGCTGGGC[G/A]GCCCGGCCGCTTTCTCGGCGCGCTGGGCGC 23023332 chr1 2160300 2160301 CM1210254 + 1 DM NULL SKI Shprintzen-Goldberg syndrome AGCAGTTCCACCTGAGCTCCATGAGCTCGC[T/C]GGGCGGCCCGGCCGCTTTCTCGGCGCGCTG 23103230 chr1 2160299 2160300 CM129806 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm GAGCAGTTCCACCTGAGCTCCATGAGCTCG[C/G]TGGGCGGCCCGGCCGCTTTCTCGGCGCGCT 23023332 chr1 2160297 2160298 CM1210255 + 1 DM NULL SKI Shprintzen-Goldberg syndrome TGGAGCAGTTCCACCTGAGCTCCATGAGCT[C/T]GCTGGGCGGCCCGGCCGCTTTCTCGGCGCG 23103230 chr1 2160267 2160268 CM129807 + 1 DM NULL SKI Shprintzen-Goldberg syndrome with aortic aneurysm TCCAGCCGCACCCGGGGCTGCAGAAGACGC[T/G]GGAGCAGTTCCACCTGAGCTCCATGAGCTC 23023332 ############################################################## chr12:14994687-14996913 ART4 1 chr12 14994737 14995068 11000 2 chr12 14995902 14995903 CS021167 - 2 FP rs55886089 ART4 Dombrock blood group variation GCCTGCAGAGACCCACAGAGGGTTCTGAGg[T/C]agggggacaattgagggggtgatctcttta 12028057 ############################################################## chr1:209824178-209829113 LAMB3 1 chr1 209828920 209829050 10000 1 chr1 209824287 209824288 CM003830 - 1 DM NULL LAMB3 Epidermolysis bullosa: Herlitz tttctggggatcaccccattggctgaagAT[G/A]AGACCATTCTTCCTCTTGTGTTTTGgtaag 10949552 chr1 209824259 209824260 CI962302 - 6 DM NULL LAMB3 Epidermolysis bullosa: junctional ATGAGACCATTCTTCCTCTTGTGTTTTGGT[-/T]AAGTACCCCTTCCCATCCTTCCAGGCCCTG 8824879 ############################################################## chr11:72430122-72433903 ARAP1 1 chr11 72430355 72430529 10000 1 chr11 72433098 72433099 CR140942 - 3 DP rs1552224 ARAP1 Diabetes: type 2: increased risk TCACAAACACTTAAAGACATAAATCACAGG[G/T]GCAAAGCCATACCTGGGCTCAAAAACCTCC 24439111 chr11 72432985 72432986 CR140936 - 3 DFP rs11603334 ARAP1 Diabetes: type 2: increased risk AGACCAGCCCAGGCGGGACCCAGGCTTGCA[T/C]GGGCAGGTACACGACATTCTTGGGCATACG 24439111 ############################################################## chr1:169554359-169556269 F5 1 chr1 169554034 169554276 11110 2 chr1 169555466 169555467 CS121360 - 2 DM NULL F5 Factor V deficiency GAGCTACCGACCTGAGCCCACAAACTCAAG[G/A]taactcaggtgtggagtccgggtgggcttc 22251029 ############################################################## chr1:169553904-169556269 F5 1 chr1 169554034 169554276 11110 2 chr1 169555466 169555467 CS121360 - 2 DM NULL F5 Factor V deficiency GAGCTACCGACCTGAGCCCACAAACTCAAG[G/A]taactcaggtgtggagtccgggtgggcttc 22251029 ############################################################## chr11:61595149-61596675 FADS2 1 chr11 62107363 62107522 10000 1 chr11 61595564 61595565 CR096268 + 3 FP rs968567 FADS2 Increased expression CGGGCAGAGGAGGTGTCGAGGCCCTGAGCT[C/T]CCGGGGAGTTTTTACTGGAGGCAAAAGTCC 19546342 ############################################################## chr11:57365204-57366719 SERPING1 1 chr11 57366935 57366985 10000 2 chr11 57365800 57365801 CS117776 + 2 DM NULL SERPING1 Angioedema: hereditary CCTCCTGCTGCTGCTGCTGGCTGGGgtatg[T/G]ggtcccttgtgggatgggggacgggggtgg 21864911 chr11 57365799 57365800 CS963018 + 2 DM NULL SERPING1 Angioneurotic oedema CCCTCCTGCTGCTGCTGCTGGCTGGGgtat[G/A]tggtcccttgtgggatgggggacgggggtg 8755917 chr11 57365797 57365798 CS053487 + 2 DM NULL SERPING1 Angioneurotic oedema GACCCTCCTGCTGCTGCTGCTGGCTGGGgt[A/G]tgtggtcccttgtgggatgggggacggggg 15971231 chr11 57365795 57365796 CS122540 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/T]tatgtggtcccttgtgggatgggggacggg 21934598 chr11 57365795 57365796 CS033511 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/A]tatgtggtcccttgtgggatgggggacggg 14635117 chr11 57365792 57365793 CX131160 + 4 DM NULL SERPING1 Angioedema: hereditary CTGCTGACCCTCCTGCTGCTGCTGCTGGCT[G/TT]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 23437219 chr11 57365783 57365792 CD087109 + 5 DM NULL SERPING1 Angioneurotic oedema AGGCTGACCCTGCTGACCCTCCTGCTGCTG[CTGCTGGCTG/-]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 18758157 chr11 57365777 57365778 CI084324 + 6 DM NULL SERPING1 Angioneurotic oedema CCTCCAGGCTGACCCTGCTGACCCTCCTGC[-/C]TGCTGCTGCTGGCTGGGGTATGTGGTCCCT 18586324 chr11 57365766 57365767 CI105964 + 6 DM NULL SERPING1 Angioneurotic oedema CGCCCAGATGGCCTCCAGGCTGACCCTGCT[-/T]GACCCTCCTGCTGCTGCTGCTGGCTGGGGT 20804470 chr11 57365759 57365760 CI004601 + 6 DM NULL SERPING1 Angioneurotic oedema ACGTCGCCGCCCAGATGGCCTCCAGGCTGA[-/GA]CCCTGCTGACCCTCCTGCTGCTGCTGCTGG 10719305 chr11 57365756 57365757 CI962234 + 6 DM NULL SERPING1 Angioneurotic oedema CTGACGTCGCCGCCCAGATGGCCTCCAGGC[-/CTCCAGGC]TGACCCTGCTGACCCTCCTGCTGCTGCTGC 8755917 chr11 57365748 57365749 CM087067 + 1 DM rs185342631 SERPING1 Angioneurotic oedema gcaggtccgctgacgtcgccgcccagATGG[C/T]CTCCAGGCTGACCCTGCTGACCCTCCTGCT 18758157 chr11 57365746 57365747 CM083108 + 1 DM NULL SERPING1 Angioneurotic oedema ccgcaggtccgctgacgtcgccgcccagAT[G/A]GCCTCCAGGCTGACCCTGCTGACCCTCCTG 18586324 chr11 57365745 57365746 CM083106 + 1 DM NULL SERPING1 Angioneurotic oedema tccgcaggtccgctgacgtcgccgcccagA[T/A]GGCCTCCAGGCTGACCCTGCTGACCCTCCT 18586324 chr11 57365744 57365745 HM080040 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/G]TGGCCTCCAGGCTGACCCTGCTGACCCTCC HGOL chr11 57365744 57365745 CM083125 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/T]TGGCCTCCAGGCTGACCCTGCTGACCCTCC 18586324 chr11 57365723 57365724 CS131171 + 2 DM? rs28362944 SERPING1 Angioedema: hereditary gctggctccgaggctggctggctccgcagG[T/C]CCGCTGACGTCGCCGCCCAGATGGCCTCCA 23437219 chr11 57365721 57365722 CS963044 + 2 DM NULL SERPING1 Angioneurotic oedema gagctggctccgaggctggctggctccgca[G/A]GTCCGCTGACGTCGCCGCCCAGATGGCCTC 8755917 chr11 57365720 57365721 CS105963 + 2 DM NULL SERPING1 Angioneurotic oedema ggagctggctccgaggctggctggctccgc[A/G]gGTCCGCTGACGTCGCCGCCCAGATGGCCT 20804470 ############################################################## chr11:57364526-57366719 SERPING1 1 chr11 57366935 57366985 10000 2 chr11 57365800 57365801 CS117776 + 2 DM NULL SERPING1 Angioedema: hereditary CCTCCTGCTGCTGCTGCTGGCTGGGgtatg[T/G]ggtcccttgtgggatgggggacgggggtgg 21864911 chr11 57365799 57365800 CS963018 + 2 DM NULL SERPING1 Angioneurotic oedema CCCTCCTGCTGCTGCTGCTGGCTGGGgtat[G/A]tggtcccttgtgggatgggggacgggggtg 8755917 chr11 57365797 57365798 CS053487 + 2 DM NULL SERPING1 Angioneurotic oedema GACCCTCCTGCTGCTGCTGCTGGCTGGGgt[A/G]tgtggtcccttgtgggatgggggacggggg 15971231 chr11 57365795 57365796 CS122540 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/T]tatgtggtcccttgtgggatgggggacggg 21934598 chr11 57365795 57365796 CS033511 + 2 DM NULL SERPING1 Angioneurotic oedema CTGACCCTCCTGCTGCTGCTGCTGGCTGGG[G/A]tatgtggtcccttgtgggatgggggacggg 14635117 chr11 57365792 57365793 CX131160 + 4 DM NULL SERPING1 Angioedema: hereditary CTGCTGACCCTCCTGCTGCTGCTGCTGGCT[G/TT]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 23437219 chr11 57365783 57365792 CD087109 + 5 DM NULL SERPING1 Angioneurotic oedema AGGCTGACCCTGCTGACCCTCCTGCTGCTG[CTGCTGGCTG/-]GGGTATGTGGTCCCTTGTGGGATGGGGGAC 18758157 chr11 57365777 57365778 CI084324 + 6 DM NULL SERPING1 Angioneurotic oedema CCTCCAGGCTGACCCTGCTGACCCTCCTGC[-/C]TGCTGCTGCTGGCTGGGGTATGTGGTCCCT 18586324 chr11 57365766 57365767 CI105964 + 6 DM NULL SERPING1 Angioneurotic oedema CGCCCAGATGGCCTCCAGGCTGACCCTGCT[-/T]GACCCTCCTGCTGCTGCTGCTGGCTGGGGT 20804470 chr11 57365759 57365760 CI004601 + 6 DM NULL SERPING1 Angioneurotic oedema ACGTCGCCGCCCAGATGGCCTCCAGGCTGA[-/GA]CCCTGCTGACCCTCCTGCTGCTGCTGCTGG 10719305 chr11 57365756 57365757 CI962234 + 6 DM NULL SERPING1 Angioneurotic oedema CTGACGTCGCCGCCCAGATGGCCTCCAGGC[-/CTCCAGGC]TGACCCTGCTGACCCTCCTGCTGCTGCTGC 8755917 chr11 57365748 57365749 CM087067 + 1 DM rs185342631 SERPING1 Angioneurotic oedema gcaggtccgctgacgtcgccgcccagATGG[C/T]CTCCAGGCTGACCCTGCTGACCCTCCTGCT 18758157 chr11 57365746 57365747 CM083108 + 1 DM NULL SERPING1 Angioneurotic oedema ccgcaggtccgctgacgtcgccgcccagAT[G/A]GCCTCCAGGCTGACCCTGCTGACCCTCCTG 18586324 chr11 57365745 57365746 CM083106 + 1 DM NULL SERPING1 Angioneurotic oedema tccgcaggtccgctgacgtcgccgcccagA[T/A]GGCCTCCAGGCTGACCCTGCTGACCCTCCT 18586324 chr11 57365744 57365745 HM080040 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/G]TGGCCTCCAGGCTGACCCTGCTGACCCTCC HGOL chr11 57365744 57365745 CM083125 + 1 DM NULL SERPING1 Angioneurotic oedema ctccgcaggtccgctgacgtcgccgcccag[A/T]TGGCCTCCAGGCTGACCCTGCTGACCCTCC 18586324 chr11 57365723 57365724 CS131171 + 2 DM? rs28362944 SERPING1 Angioedema: hereditary gctggctccgaggctggctggctccgcagG[T/C]CCGCTGACGTCGCCGCCCAGATGGCCTCCA 23437219 chr11 57365721 57365722 CS963044 + 2 DM NULL SERPING1 Angioneurotic oedema gagctggctccgaggctggctggctccgca[G/A]GTCCGCTGACGTCGCCGCCCAGATGGCCTC 8755917 chr11 57365720 57365721 CS105963 + 2 DM NULL SERPING1 Angioneurotic oedema ggagctggctccgaggctggctggctccgc[A/G]gGTCCGCTGACGTCGCCGCCCAGATGGCCT 20804470 chr11 57365118 57365119 CR961721 + 3 DM NULL SERPING1 Angioneurotic oedema CGGGCCAGCCAATAGCTAAGACTGCCCCCC[C/G]CGCACCCCACCCTCCCTGACCCTGGGGGAC 8755917 chr11 57365057 57365058 HR080001 + 3 DM NULL SERPING1 Angioneurotic oedema CTGATTTACAGGAACTCACACCAGCGATCA[A/G]TCTTCCTTAATTTGTAACTGGGCAGTGTCC HGOL chr11 57365055 57365056 CR961722 + 3 DM NULL SERPING1 Angioneurotic oedema TCCTGATTTACAGGAACTCACACCAGCGAT[C/T]AATCTTCCTTAATTTGTAACTGGGCAGTGT 8755917 ############################################################## chr11:1860931-1864245 TNNI2 1 chr11 1863889 1864112 10000 1 chr11 1862759 1862761 CD064657 + 5 DM NULL TNNI2 Distal arthrogryposis syndrome 2b AGGAGAAGTCTGGCATGGAGGGCCGGAAGA[AGA/-]TGTTTGAGTCCGAGTCCTAGGCCACTCGCT 16924011 chr11 1862757 1862758 CM131699 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b CGAGGAGAAGTCTGGCATGGAGGGCCGGAA[G/T]AAGATGTTTGAGTCCGAGTCCTAGgccact 23401156 chr11 1862753 1862754 CM030720 + 1 DM rs104894311 TNNI2 Distal arthrogryposis syndrome 2b ACATCGAGGAGAAGTCTGGCATGGAGGGCC[G/A]GAAGAAGATGTTTGAGTCCGAGTCCTAGgc 12592607 chr11 1862752 1862753 CM1312926 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b AACATCGAGGAGAAGTCTGGCATGGAGGGC[C/T]GGAAGAAGATGTTTGAGTCCGAGTCCTAGg 24343878 chr11 1862734 1862735 CM131698 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b GTGGGTGACTGGAGGAAGAACATCGAGGAG[A/G]AGTCTGGCATGGAGGGCCGGAAGAAGATGT 23401156 chr11 1862731 1862733 CD061481 + 5 DM rs199474800 TNNI2 Distal arthrogryposis syndrome 2b GACGTGGGTGACTGGAGGAAGAACATCGAG[GAG/-]AAGTCTGGCATGGAGGGCCGGAAGAAGATG 16497570 chr11 1862725 1862726 CM137548 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2a CTGCGAGACGTGGGTGACTGGAGGAAGAAC[A/T]TCGAGGAGAAGTCTGGCATGGAGGGCCGGA 23850728 chr11 1862716 1862717 CM131697 + 1 DM NULL TNNI2 Distal arthrogryposis syndrome 2b GAGCGGGACCTGCGAGACGTGGGTGACTGG[A/G]GGAAGAACATCGAGGAGAAGTCTGGCATGG 23401156 chr11 1862698 1862699 CM030719 + 1 DM rs104894312 TNNI2 Distal arthrogryposis syndrome 2b ctgccctctcctccacagGAGCGGGACCTG[C/T]GAGACGTGGGTGACTGGAGGAAGAACATCG 12592607 ############################################################## chr11:116697545-116701124 APOC3 1 chr11 116697509 116697866 11000 4 chr11 116700169 116700170 CR033992 + 3 DP rs2854116 APOC3 Insulin/NEFA levels: association with GCCTGGTCTTCTGTGCCTTTACTCCAAACA[C/T]CCCCCAGCCCAAGCCACCCACTTGTTCTCA 12697301 chr11 116700142 116700143 CR033993 + 3 DP rs2854117 APOC3 Insulin/NEFA levels: association with TAACCAGGCCTTGCCGGAGCCACTGATGCC[T/C]GGTCTTCTGTGCCTTTACTCCAAACACCCC 12697301 chr11 116699984 116699985 CR061330 + 3 FP rs2542052 APOC3 Lower serum APOC3 level GCCCTTCTCCACCAACCCCTGCCCTACACT[A/C]AGGGGGAGGCAGCGGGGGGCACACAGGGTG 16602826 ############################################################## chr11:112031761-112035340 IL18 1 chr11 112031856 112032065 11000 1 chr11 112034988 112034989 CR056783 - 3 DFP rs187238 IL18 Colonic disease in CARD15 mutation positive individuals: association GCACAGAGCCCCAACTTTTACGGAAGAAAA[C/G]ATTTCATGAAAATAGTGATATTACATTAAA 16306764 ############################################################## chr10:92678200-92678800 ANKRD1 1 chr10 93563244 93563378 10000 1 chr10 92678728 92678729 CM081517 - 1 DM rs142354133 ANKRD1 Total anomalous pulmonary venous return atatatatatttatttattttggctttagA[C/T]GGAACCTGTGGATGTGCCTACGTTTCTGAA 18273862 chr10 92678707 92678708 CM094353 - 1 DM rs145387010 ANKRD1 Cardiomyopathy: hypertrophic ggctttagACGGAACCTGTGGATGTGCCTA[C/T]GTTTCTGAAGGCTGCTCTGGAGAATAAACT 19608031 ############################################################## chr10:60144681-60145816 TFAM 1 chr10 60817855 60818033 11000 2 chr10 60145342 60145343 CM086330 + 1 DP rs1937 TFAM Alzheimer disease: late-onset: reduced risk: association with CGTTTCTCCGAAGCATGTGGGGCGTGCTGA[G/C]TGCCCTGGGAAGGTCTGGAGCAGAGCTGTG 18430995 chr10 60145217 60145218 CR087626 + 3 DM? rs138971800 TFAM Cardiac hypertrophy GCGGGCATGATAACACACGCCGGAGGGTCG[C/A]ACGCGGGTTCCAGTTGTGATTGCTGGAGTT 19096125 ############################################################## chr10:18549083-18551082 CACNB2 1 chr10 18550659 18551251 10000 2 chr10 18549641 18549642 CR109071 + 3 DFP rs2357928 cacnb2i1 Adverse response to antihypertensive drugs: assoc with CAGAGGTAACAGTGAATCCAGGATGCTGCT[A/G]TCAGCCTGTGCATTGTGAAGAAGGCAATCA 21156931 ############################################################## chr10:124913617-124914718 BUB3 1 chr10 125823378 125823552 11100 1 chr10 124914496 124914497 CM138757 + 1 DM NULL BUB3 Variegated aneuploidy GCCACCCGAGGATGGCATCTCCTCCGTGAA[G/C]TTCAGCCCCAACACCTCCCAGTTCCTGCTT 23747338