############################################################## chr16:67977932-67978202 11111 15 LCAT S 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 ############################################################## chr16:67976830-67977556 11111 15 LCAT S 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 ############################################################## chr1:230838780-230839025 10010 9 AGT S COG2 S EGLN1 S GALNT2 S SPRTN S chr1 230838973 230838974 CM120997 - 1 DM rs375261929 AGT Renal tubular dysgenesis AAGCCTGAGGTCTTGGAGGTGACCCTGAAC[C/T]GCCCATTCCTGTTTGCTGTGTATGATCAAA 22095942 ############################################################## chr22:29196600-29196825 11000 8 XBP1 S chr22 29196757 29196758 CR032722 - 3 DFP rs2269577 XBP1 Bipolar disorder: increased risk: association with AAATCCGTTTGTGGAGGACACGCTCCCGCA[C/G]GTAACCCCCCGCGGAAAATGACCCCAAGTA 12949534 ############################################################## chr20:3869432-3870019 11101 8 PANK2 S chr20 3869884 3869885 CM1312590 + 1 DM? rs148036492 PANK2 HARP syndrome CCTCCACCACCCTCTCCCCGCCCCGTCACG[A/T]TAGCCTCTCATTGGACGGAGGCACGGTCAA 24215330 ############################################################## chr17:79995244-79995843 11100 7 DCXR S chr17 79995506 79995507 CS119207 - 2 DM rs375243154 DCXR Pentosuria GCCGGGTGCTGGTCACCGGGGCAGGCAAAG[G/A]tgggcggcggggaaaggtgggcaaaggccg 22042873 ############################################################## chr13:113777065-113777505 11111 7 F10 S 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 ############################################################## chr5:42808267-42808439 10111 6 SEPP1 S chr5 42808371 42808372 CM140142 - 1 DP rs72554691 SEPP1 IL6 levels: association with ACAGAGAGCCAGGACCAAAGCTCCTTATGT[A/G]AGCAACCCCCAGCCTGGAGCATAAGAGATC 24161883 ############################################################## chr2:73114123-73114458 11010 6 SPR S chr2 73114352 73114353 CR092019 + 3 FP rs1876487 SPR Reduced expression TCTGTTGTCCCACTTGGCACGGACTGGGCT[C/A]CCGCCACGGTTTGACTTCCGCCACCAGCAA 19415819 ############################################################## chr11:116708184-116708604 11110 6 APOA1 S 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 ############################################################## chr20:48552687-48552966 10000 5 RNF114 S 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 ############################################################## chr19:45439151-45439359 10000 5 21183 S APOE S BCAM S PPP1R13L S VASP S chr19 45439163 45439164 CR084697 + 3 DP rs35136575 APOC1 LDL cholesterol levels: association with CAGGCTCTGTTTTTGGGCCCGCCCTGCCCC[C/G]TTCCGACCTCTTAGTTCCTATCCTCCAGCA 18378515 ############################################################## chr19:11199927-11200245 11010 5 LDLR S 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 ############################################################## chr1:230849833-230850481 11111 5 AGT S 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 ############################################################## chr7:75544208-75544526 10111 4 ENSG00000127948 S chr7 75544268 75544269 CR111712 + 3 FP rs72553972 POR Reduced transcription GGAACCACGCACTTTCATTTCTCTGCCGGG[C/A]GACCCAGCCGAGCCGCGAGGGGGCGTGGCC 21070833 ############################################################## chr2:178129477-178130109 10101 4 NFE2L2 S 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 ############################################################## chr19:6719200-6719359 10000 4 C3 S 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 ############################################################## chr17:64225329-64225753 11111 4 APOH S chr17 64225529 64225530 CR033517 - 3 DFP rs8178822 APOH Apolipoprotein H deficiency: association with TTTGGCTCTGTCTTTTTAGCAGACGAAAAC[C/A]ACTTTGGTAGTGCCAGTGTGACTCATCCAC 12605674 ############################################################## chr7:6413987-6414115 10000 3 RAC1 S chr7 6414078 6414079 CR113096 + 3 DFP rs34932801 RAC1 Azathioprine haematotoxicity in TPMT carriers: association with GAGCGGCGCGGGCGGGAGCGGCGCGGGCGG[G/C]AGCGGCCCCGCCCGGAACCTGGGAGCGGCG 21372752 ############################################################## chr6:43737880-43738495 11111 3 VEGFA S 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 ############################################################## chr22:21212470-21212599 11101 3 SNAP29 S chr22 21212476 21212477 CR014437 + 3 DP rs165596 SNAP29 Schizophrenia: association with GGTCGCGGAATAAAAAGCAGGTGAAATCGG[A/G]AGCAGAACCCCAGGTCTTGACCCCTGGTCC 11317222 ############################################################## chr2:128175931-128176191 11000 3 PROC F PROC S 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 ############################################################## chr20:32890762-32891424 10000 3 AHCY S chr20 32891110 32891111 CR096336 - 3 FP rs57344541 AHCY Reduced transcription CAGTTCCTGTTCCCAGACTGAGGCCCAGCC[C/T]CCTTCGCCCGTTTCCATCACGAGTGCCGCC 19619139 ############################################################## chr19:45408649-45409078 10000 3 APOE S chr19 45408836 45408837 CR982405 + 3 DFP rs405509 APOE Alzheimer disease: susceptibility to: association with CTTGGCCCCCAGAATGGAGGAGGGTGTCTG[G/T]ATTACTGGGCGAGGTGTCCTCCCTTCCTGG 9467014 ############################################################## chr19:42363618-42364317 11000 3 ENSG00000105372 S chr19 42364187 42364188 CR099926 + 3 DM? NULL RPS19 Diamond-Blackfan anaemia CCCTCCCCTTTACCTCTCCACCCCTCACTA[G/A]ACACCCTCCCCTCTAGGCGGGGACGAACTT 20054847 ############################################################## chr17:41052516-41052852 11010 3 G6PC S chr17 41052817 41052818 CR053501 + 3 DFP rs145752565 G6PC Hypoglycaemia: association with TATAAAACAGGGGCAAGGCACAGACTCATA[G/A]CAGAGCAATCACCACCAAGCCTGGAATAAC 15918042 ############################################################## chr16:67694549-67694873 11111 3 ACD S chr16 67694606 67694607 CR051280 + 3 DFP rs72547496 PARD6A Increased glucose tolerance: association with ACAGTGCACGGTCTTGTAAGGCCAGTGGAA[A/G]TAAGAGCACACACACAGCGCTAAATAAATG 15744531 ############################################################## chr14:95078478-95078782 10000 3 SERPINA3 S chr14 95078677 95078678 CR013120 + 3 DFP rs1884082 SERPINA3 Increased plasma ACT concentration CACTTGGTTGTCCTGGCATTTCCCAAGCAG[G/T]GGGAGGAGTTCTCTGCAGGAATAAATAAGC 11702211 ############################################################## chr14:35873977-35874413 11111 3 NFKBIA F chr14 35874270 35874271 CR136345 - 3 DFP rs2233409 NFKBIA Airway hyperresponsiveness after viral infection: association with TCGATCGTGGGAAACCCCAGGGAAAGAAGG[C/T]TCACTTGCAGAGGGACAGGATTACAGGGTG 23487427 ############################################################## chr13:46679052-46679384 11101 3 CPB2 F CPB2 S chr13 46679312 46679313 CR080758 - 3 FP rs11574980 CPB2 Increased promoter activity TTATCAAGCAACAGCCTAACTAAGCCAATA[A/G]TATTTCTCTTTTTGGGAGTGGAAATGGAAG 17855631 ############################################################## chr1:231556687-231556856 11010 3 EGLN1 S 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 ############################################################## chr8:11560495-11560847 11101 2 GATA4 F chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 ############################################################## chr8:103251011-103251275 11110 2 RRM2B F chr8 103251055 103251056 CS1211103 - 2 DM NULL RRM2B Progressive external ophthalmoplegia GCCGGAAGCGGCCGGGCTGGATCAGGATGA[G/A]gtaaatgttgctgttgcgtcttccccctca 23107649 ############################################################## chr7:92157668-92157987 11111 2 C7orf64 F PEX1 F chr7 92157886 92157887 CR053504 - 3 FP rs12386601 PEX1 Altered gene expression TGTCCCACCCACTACAGGCTTACGGCAGGA[T/C]GCGCAGCGGGGAGAGGGGGCGGGGCCGCAG 16088892 chr7 92157802 92157803 CR053503 - 3 FP rs12386703 PEX1 Altered gene expression CCGGCTCCGACGTCCTCGGCCTGCCGGGTC[C/G]CGGGTCCTTTGCGGCGCTAGGGTGGGCGAA 16088892 chr7 92157748 92157749 CM111097 - 1 DM NULL PEX1 Zellweger syndrome gggcgaacccagagcgacgctccgggacgA[T/C]GTGGGGCAGCGATCGCCTGGCGGGTGCTGG 21031596 chr7 92157747 92157748 CM111098 - 1 DM NULL PEX1 Zellweger syndrome ggcgaacccagagcgacgctccgggacgAT[G/A]TGGGGCAGCGATCGCCTGGCGGGTGCTGGG 21031596 chr7 92157745 92157746 CM111099 - 1 DM NULL PEX1 Zellweger syndrome cgaacccagagcgacgctccgggacgATGT[G/A]GGGCAGCGATCGCCTGGCGGGTGCTGGGGG 21031596 chr7 92157693 92157694 CD111119 - 5 DM NULL PEX1 Zellweger syndrome GTGCTGGGGGAGGCGGGGCGGCAGTGACTG[TG/-]GCCTTCACCAACGCTCGCGACTGCTTCCTC 21031596 ############################################################## chr6:132272480-132272721 11000 2 CTGF S chr6 132272535 132272536 CR103219 - 3 DFP NULL CTGF Nephropathy: in type 1 diabetes: association with GAGCCGCGGCCGCCCGGAGCGTATAAAAGC[C/G]TCGGGCCGCCCGCCCCAAACTCACACAACA 20522428 ############################################################## chr5:131826458-131826770 11110 2 IRF1 F chr5 131826765 131826766 CR076711 - 3 FP rs2549009 IRF1 Reduced expression CAAGGCGGAGTGAGAGGACAGGCTGGGGCC[G/A]GGGGCGCTGGGCTGTCCCGGGCAGCCCTCC 18079498 ############################################################## chr3:10183349-10183859 10000 2 VHL S 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 ############################################################## chr2:219646662-219647405 11101 2 CYP27A1 S CYP27A1 F 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 ############################################################## chr2:219135108-219135279 11101 2 AAMP S chr2 219135278 219135279 CM042101 + 1 DM rs121434512 PNKD Paroxysmal nonkinesiogenic dyskinesia gggatctgaacATGGCGGCGGTGGTAGCTG[C/T]TACGGCGCTGAAGGGCCGGGGGGCGAGAAA 15262732 ############################################################## chr2:211421065-211421662 11101 2 CPS1 F chr2 211421582 211421583 CD114399 + 5 DM NULL CPS1 Carbamoyl phosphate synthetase I deficiency CAAGACCTGGCATCAGGCTCCTTTCTGTCA[A/-]GGTAATACCCATATTGATTGTTTCTGATAA 21120950 ############################################################## chr2:157189163-157189267 11101 2 NR4A2 F chr2 157189174 157189175 CR092630 - 3 DM NULL NR4A2 Parkinson disease CCAGGGCCAGTCCGCCCGGCGGCTCGCGCA[C/T]GGCTCCGCGGTCCCTTTTGCCTGTCCAGCC 19429166 ############################################################## chr19:49468384-49469011 11111 2 FTL F 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 ############################################################## chr19:11199537-11200245 11010 2 LDLR F 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 ############################################################## chr17:42422387-42422654 11111 2 GRN S GRN F chr17 42422638 42422639 CR072310 + 3 DM? rs76783532 GRN Frontotemporal dementia CAATGGAAACTGAGGTAGGCGGGTCATCGC[G/T]CTGGGGTCTGTAGTCTGAGCGCTACCCGGT 17345602 chr17 42422527 42422528 CR084963 + 3 DM? NULL GRN Amyotrophic lateral sclerosis AGGAAGCAGGGAGGAGAGTGATTTGAGTAG[A/G]AAAGAAACACAGCATTCCAGGCTGGCCCCA 18184915 ############################################################## chr16:66969278-66969586 11000 2 FAM96B S chr16 66969539 66969540 CM077514 + 1 FP NULL CES2 Altered function CGGCAGCGAACCGAGACCAGCGAGCCGACC[A/T]TGCGGCTGCACAGACTTCGTGCGCGGCTGA 17640957 ############################################################## chr16:56642177-56642584 11010 2 MT2A F chr16 56642491 56642492 CR066330 + 3 DFP rs28366003 MT2A Cellular response to cadmium: association with TCTAGCTATAAACACTGCTTGCCGCGCTGC[A/G]CTCCACCACGCCTCCTCCAAGTCCCAGCGA 16927099 ############################################################## chr14:94854851-94855219 11010 2 SERPINA1 S chr14 94854896 94854897 CS021763 - 2 DM NULL SERPINA1 Antitrypsin alpha 1 deficiency GGCACCACCACTGACCTGGGACAGTGAATC[G/A]taagtatgcctttcactgcgagaggttctg 12220457 ############################################################## chr13:113812794-113813011 11101 2 PROZ S 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 ############################################################## chr11:57365436-57365853 11000 2 SERPING1 F 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 ############################################################## chr11:116699703-116700007 11110 2 APOC3 S APOC3 F chr11 116699984 116699985 CR061330 + 3 FP rs2542052 APOC3 Lower serum APOC3 level GCCCTTCTCCACCAACCCCTGCCCTACACT[A/C]AGGGGGAGGCAGCGGGGGGCACACAGGGTG 16602826 ############################################################## chr9:90340763-90341136 00000 1 CTSL1 F chr9 90340863 90340864 CR127899 + 3 DFP rs3118869 CTSL1 Hypertension: association with GCTTCCTCCAGGTCCACTGAGGCAGGCACG[C/A]CCAGCTCTGGGACAGTCAGTAAACAAGCCA 22871890 ############################################################## chr8:11560574-11560847 11101 1 GATA4 F chr8 11560787 11560788 CR123492 + 3 DM rs372004083 GATA4 Ventricular septal defect GGTAATCGATGGGTTATTTTTACGCGGTAA[T/C]AGGGCCCTGTGATTGCTCTATTAACCTTTA 22500510 ############################################################## chr7:100769535-100769792 10101 1 SERPINE1 S chr7 100769538 100769539 CR962707 + 3 DP rs2227631 SERPINE1 Venous thrombosis: increased risk: association AGCTGCCCCAAGTCCTAGCGGGCAGCTCGA[G/A]GAAGTGAAACTTACACGTTGGTCTCCTGTT 8987164 ############################################################## chr6:31239480-31239974 00000 1 HLA-C F chr6 31239627 31239629 CX087937 - 4 FP NULL HLA-C HLA-C null allele CTCCTCGCCCCCAGGCTCCCACTCCATGAG[GTA/CT]TTTCGACACCGCCGTGTCCCGGCCCGGCCG 18380775 ############################################################## chr6:137540482-137541269 11000 1 IFNGR1 F chr6 137541075 137541076 CR045895 - 3 FP rs1327474 IFNGR1 Increased promoter activity GAGAGCAGACCTCTTCATGAGAGGCTGCCT[A/G]ATAAACTGATTTGACACTGAATTGCTGAGA 15207788 chr6 137540520 137540521 CR025333 - 3 DFP rs2234711 IFNGR1 Malaria: susceptibility: association with AAGTGACGTAAGGCCGGGGCTGGAGGGCAG[T/C]GCTGGGCTGGTCCCGCAGGCGCTCGGGGTT 12023780 ############################################################## chr5:142783226-142783411 11100 1 NR3C1 F chr5 142783268 142783269 CR113070 - 3 FP rs10482606 NR3C1 Reduced promoter activity GGGGGTGGAGTGGGAGCGCGTGTGTGCGAG[T/C]GTGTGCGCGCCGTGGCGCCGCCTCCACCCG 21234764 ############################################################## chr4:74269769-74270145 11111 1 ALB S chr4 74270124 74270125 CS020325 + 2 DM rs77408163 ALB Analbuminaemia ATTCCAGGGGTGTGTTTCGTCGAGATGCAC[G/A]taagaaatccatttttctattgttcaactt 11781148 chr4 74270123 74270124 CM940018 + 1 FP rs141733599 ALB Albumin variant TATTCCAGGGGTGTGTTTCGTCGAGATGCA[C/T]gtaagaaatccatttttctattgttcaact 8022807 chr4 74270118 74270119 CM910021 + 1 FP rs75353611 ALB Albumin variant CGGCTTATTCCAGGGGTGTGTTTCGTCGAG[A/T]TGCACgtaagaaatccatttttctattgtt 1946412 chr4 74270115 74270116 CM910022 + 1 FP rs74821926 ALB Albumin variant GCTCGGCTTATTCCAGGGGTGTGTTTCGTC[G/A]AGATGCACgtaagaaatccatttttctatt 1946412 chr4 74270115 74270116 CM890279 + 1 FP rs74821926 ALB Albumin variant GCTCGGCTTATTCCAGGGGTGTGTTTCGTC[G/T]AGATGCACgtaagaaatccatttttctatt 2792379 chr4 74270115 74270116 CM870084 + 1 FP rs74821926 ALB Albumin variant GCTCGGCTTATTCCAGGGGTGTGTTTCGTC[G/C]AGATGCACgtaagaaatccatttttctatt 3479777 chr4 74270112 74270113 CM910023 + 1 FP rs72552709 ALB Albumin variant TTAGCTCGGCTTATTCCAGGGGTGTGTTTC[G/A]TCGAGATGCACgtaagaaatccatttttct 1946412 chr4 74270111 74270112 CM900010 + 1 FP rs80008208 ALB Albumin variant TTTAGCTCGGCTTATTCCAGGGGTGTGTTT[C/T]GTCGAGATGCACgtaagaaatccatttttc 2104980 chr4 74270045 74270046 CM130195 + 1 DM NULL ALB Analbuminaemia cttctgtcaaccccacacgcctttggcaca[A/C]TGAAGTGGGTAACCTTTATTTCCCTTCTTT 23176518 ############################################################## chr4:157892059-157893046 11101 1 PDGFC F chr4 157893041 157893042 CR092999 - 3 DFP rs28999109 PDGFC Cleft lip with or without cleft palate: association GCGCGCTCCGCCCGGGCTCGGCCCACGGCC[C/T]CCACCTCCTGTCTGCCGCCCGGCGGGGGGA 19092777 ############################################################## chr3:50649216-50649703 11111 1 CISH F chr3 50649499 50649500 CR109400 - 3 DFP rs414171 CISH Bacteraemia: malaria: and tuberculosis: susceptibility to: association with CACGCGCTGCTATTGGCCCTCCCCGACCGC[T/A]CGGCTCCACCTTCAGCGTCGCGATTGGTCA 20484391 ############################################################## chr3:50273146-50273456 11101 1 GNAI2 F chr3 50273450 50273451 CR065640 + 3 FP NULL GNAI2 Altered transcriptional activity CCTTTTCTCCGCGTGGCCCCGCCTGCAGCC[C/G]AGGCCCGAGCCTGGGCTGCGCCTAACTTCC 16565233 ############################################################## chr3:38180272-38180424 11000 1 ACAA1 S chr3 38180348 38180350 CD084165 + 5 DM NULL MYD88 MYD88 deficiency GTGGCGGCCGACTGGACCGCGCTGGCGGAG[GAG/-]ATGGACTTTGAGTACTTGGAGATCCGGCAA 18669862 chr3 38180348 38180349 CM1010437 + 1 DM NULL MYD88 MYD88 deficiency GTGGCGGCCGACTGGACCGCGCTGGCGGAG[G/T]AGATGGACTTTGAGTACTTGGAGATCCGGC 20538326 chr3 38180292 38180293 CM107810 + 1 FP rs1319438 MYD88 Reduced function CTCTCAACATGCGAGTGCGGCGCCGCCTGT[C/A]TCTGTTCTTGAACGTGCGGACACAGGTGGC 20966070 ############################################################## chr3:30647757-30648189 11100 1 TGFBR2 F chr3 30648039 30648040 CR064484 + 3 DM? NULL TGFBR2 Marfan syndrome II TCTCGGGCGGAGAGAGGTCCTGCCCAGCTG[T/A]TGGCGAGGAGTTTCCTGTTTCCCCCGCAGC 16799921 ############################################################## chr3:12392710-12393135 11111 1 PPARG F chr3 12393125 12393126 CM981614 + 1 DFP rs1801282 PPARG Obesity: association with GGTGAAACTCTGGGAGATTCTCCTATTGAC[C/G]CAGAAAGCGATTCCTTCACTGATACACTGT 9792554 ############################################################## chr3:11313946-11314163 11010 1 ATG7 F chr3 11314041 11314042 CR130996 + 3 DM? rs77630528 ATG7 Parkinson disease TTTGCGCACGCGCGCCGCTTCCCAGTGGCA[G/A]GCGCGGGCAGGACCGCGTTGCGTCATCGGG 23295909 ############################################################## chr2:241807715-241808342 10001 1 AGXT S 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 ############################################################## chr2:208394501-208394633 11100 1 CREB1 F chr2 208394571 208394572 CR108228 + 3 DFP rs146062007 CREB1 Major depressive disorder: association with ACCCGAAGGTCTTCGGCAAGTTCCGTCCCC[A/G]GCGCGGGGGCGGGGCCGCTCGAGCTGCTCC 20957653 ############################################################## chr21:43619601-43619847 11101 1 ABCG1 F chr21 43619665 43619666 CR096274 + 3 DFP rs1378577 ABCG1 Coronary artery disease: severity: in Japanese men: association with ACTAGGTGCTGCTTTACGCCCAGTGACTTG[T/G]GAGGGAACAGAACTGCCCTTTAGTAACCCT 19556716 ############################################################## chr2:122288509-122288881 11111 1 CLASP1 S 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 ############################################################## chr2:118845759-118846045 11111 1 INSIG2 F chr2 118845948 118845949 CR082020 + 3 DFP rs76335892 INSIG2 Reduced BMI: association with AGACCGGAAGCCCTTTTGCCCCGGCTCGCA[G/A]GTCCACGTCTTATTGACAGCAGGAACCGGA 18319320 ############################################################## chr19:35773146-35773511 10011 1 HAMP S 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 ############################################################## chr19:33793067-33793179 11000 1 CEBPA F 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 ############################################################## chr19:12992140-12992436 11100 1 DNASE2 F chr19 12992336 12992337 CR004774 - 3 FP NULL DNASE2 Reduced promoter activity CTCCAAAACGCAGCATCGCGTCTCGGGGGA[G/A]GAGTCTGTACCCTCGTGATGTCCCCGCCCC 10675544 ############################################################## chr17:73513716-73513871 11000 1 TSEN54 F chr17 73513738 73513739 CS118261 + 2 DM NULL TSEN54 Pontocerebellar hypoplasia 5 ACCACACTGTGACCTTCCTGCAGTACCAGg[T/C]atctgccaccaccccgcctccgggagccac 21368912 ############################################################## chr17:7123640-7124061 11110 1 ACADVL S chr17 7123997 7123998 CS127072 + 2 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CACAGATCAGGTGTTCCCATACCCGTCCGg[T/G]aagggaagggataatcagagctgggtgggg 22847164 chr17 7123990 7123991 CM140577 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency AGCTCACCACAGATCAGGTGTTCCCATACC[C/T]GTCCGgtaagggaagggataatcagagctg 23966064 chr17 7123983 7123984 CM022305 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency AAAGGCCAGCTCACCACAGATCAGGTGTTC[C/T]CATACCCGTCCGgtaagggaagggataatc 11914034 chr17 7123969 7123970 CD991551 + 5 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency CTGTGGGAATGTTCAAAGGCCAGCTCACCA[CA/-]GATCAGGTGTTCCCATACCCGTCCGGTAAG 9973285 chr17 7123945 7123946 CM065964 + 1 DM NULL ACADVL Very long chain acyl-CoA dehydrogenase deficiency ctgcccagGAATCTAAGTCCTTTGCTGTGG[G/A]AATGTTCAAAGGCCAGCTCACCACAGATCA 16860141 chr17 7123838 7123839 CS004151 + 2 DM? rs28934585 ACADVL Very long chain acyl-CoA dehydrogenase deficiency ACCCCTCTGACGCTCTGACCAGGAAAAAAC[C/T]GGCCAAGGCGgtaggtagccccgaggccag 10790204 ############################################################## chr17:1665122-1665355 10110 1 SERPINF1 F chr17 1665330 1665331 CR054284 + 3 FP rs9913583 SERPINF1 Altered promoter activity GGACGCTGGATTAGAAGGCAGCAAAAAAAG[A/C]TCTGTGCTGGCTGGAGCCCCCTCAGTGTGC 16086313 ############################################################## chr16:72050863-72051415 11000 1 RNU6-1061P S chr16 72050942 72050943 CM100128 + 1 DM rs267606766 DHODH Miller syndrome gtgctctgcagGTATGGATTTAACAGTCAC[G/A]GGCTTTCAGTGGTGGAACACAGGTTACGGG 19915526 ############################################################## chr16:71606443-71606983 11101 1 RNU6-1061P S 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 ############################################################## chr1:63788021-63788211 11010 1 FOXD3 F chr1 63788091 63788092 CR052971 + 3 DFP rs41285370 FOXD3 Vitiligo: autosomal dominant: association with CCCCGGGGATGCTGGCGCACAGTGCGGAGC[G/T]GAGTTGCGCGTCTCTCGTCCCTTTGTTGAC 16098053 ############################################################## chr16:31470588-31471493 00000 1 ARMC5 S chr16 31471101 31471102 CM1312671 + 1 DM NULL ARMC5 Macronodular adrenal hyperplasia: corticotropin-independent CGAGCGGCTGCAGCGGGTTCCGCCCCGTCC[C/T]AGGCAGGCCCCGGCTCCGCCCCCTCGTCGG 24283224 chr16 31471015 31471016 CD1312676 + 5 DM NULL ARMC5 Macronodular adrenal hyperplasia: corticotropin-independent TCCGCACGCGCCACATCAAGGCAGCGGGGG[G/-]AATCGAGCGCTTCCGGGCACGCGGCGGGCT 24283224 ############################################################## chr16:31104690-31104952 11111 1 VKORC1 S 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 ############################################################## chr15:90294069-90294308 10100 1 MESP1 S chr15 90294296 90294297 CI1311837 - 6 FP rs71934166 MESP1 Reduced activity CCCCAGCCGACAGCCCCGTGGCGAGCCCCG[-/TGGCGAGCCCCG]CGCGGCCAGGCACCCTCCGGGACCCCCGCG 24056064 ############################################################## chr14:94856803-94857420 11010 1 SERPINA1 F chr14 94856914 94856915 CR061339 - 3 DP rs8004738 SERPINA1 Chronic obstructive pulmonary disease: association with AGGGGGTCGGGCCTCCGAGGAAGGCCTAGC[C/T]GCTGCTGCTGCCAGGAATTCCAGGTTGGAG 16278826 ############################################################## chr13:52586055-52586335 11110 1 ATP7B S chr13 52586149 52586150 CR139980 - 3 DM? NULL ATP7B Wilson disease GCGCACAGCGGATCGATTTTCCAGGTGCGG[A/G]GTTCACTCTTGCCGCGGTTGCTTCCTTTGG 24094725 ############################################################## chr13:52585486-52585612 10101 1 ATP7B S 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 ############################################################## chr1:33502425-33502773 11110 1 AK2 S chr1 33502429 33502430 CM090012 - 1 DM rs137853206 AK2 Reticular dysgenesia aactggtggcagtgagagacttcggcggac[A/G]TGGCTCCCAGCGTGCCAGCGGCAGAACCCG 19043417 ############################################################## chr13:113759923-113760268 10101 1 F7 S 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 ############################################################## chr12:69201608-69201809 00000 1 MDM2 F chr12 69201797 69201798 CR082025 + 3 DFP rs937282 MDM2 Bladder cancer: increased risk: association with GCTCGCGGCCAACACCCCCACCCCGCCTCA[C/G]AGCCCGCCGCGCCCGCGGGGCGACACCCCC 18519798 ############################################################## chr12:121570526-121571131 10000 1 P2RX7 F chr12 121570899 121570900 CS051694 + 2 DFP rs35933842 P2RX7 Null allele CTTCCACGTGATCATCTTTTCCTACGTTTG[G/T]taagtgggatctggggaggacccagatctc 15862308 ############################################################## chr11:88070843-88070984 11101 1 CTSC F chr11 88070895 88070896 CR1212541 - 3 DM NULL CTSC Papillon-Lefevre syndrome CGCGCGCCTCGTGGTGGACTCACCGCTAGC[C/A]CGCAGCGCTCGGCTTCCTGGTAATTCTTCA 23108224 ############################################################## chr11:61595334-61595737 11101 1 FADS2 S chr11 61595564 61595565 CR096268 + 3 FP rs968567 FADS2 Increased expression CGGGCAGAGGAGGTGTCGAGGCCCTGAGCT[C/T]CCGGGGAGTTTTTACTGGAGGCAAAAGTCC 19546342 ############################################################## chr11:57364864-57365172 11111 1 SERPING1 F 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 ############################################################## chr1:112046456-112046665 10000 1 ADORA3 F chr1 112046540 112046541 CR107423 - 3 FP rs1544224 ADORA3 Increased transcription factor binding affinity GAAAGATTGCATAGTCAGTGCTTCCAGCTC[T/C]GCTCCCACCTGATCCTGCACTGTCCTCTGG 20716228 ############################################################## chr10:95360951-95361647 11101 1 RBP4 S chr10 95361588 95361589 CR071285 - 3 DFP rs3758539 RBP4 Diabetes: type 2: association with GTTGCGTTTCTGGAGAATATTTAACAGGGA[G/A]GGTTTTAACGCTTTTAAAGATGTTGAAACT 17006670 ############################################################## chr10:73610945-73611220 11000 1 PSAP F chr10 73610978 73610979 CM920598 - 1 DM rs121918106 PSAP Prosaposin deficiency gcattgcagactgcggagtcagacggcgct[A/T]TGTACGCCCTCTTCCTCCTGGCCAGCCTCC 1371116 chr10 73610978 73610979 CM083049 - 1 DM NULL PSAP Metachromatic leukodystrophy gcattgcagactgcggagtcagacggcgct[A/G]TGTACGCCCTCTTCCTCCTGGCCAGCCTCC 17616409