Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs687289
ABO
1.000 0.120 9 133261703 intron variant A/G snv 15
rs1555162597
ACVR1B
1.000 0.120 12 51991357 splice acceptor variant ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- delins 1
rs387906389
ACVR1B
1.000 0.120 12 51986840 frameshift variant GATGA/- del 1
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs150495372
ADH1B
0.925 0.120 4 99313834 missense variant C/T snv 3.7E-04 3
rs698
ADH1C ; ADH1B
0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 20
rs1693482
ADH1C ; ADH1B
0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 12
rs35385902
ADH1C ; ADH1B
0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 9
rs1501299
ADIPOQ ; ADIPOQ-AS1
0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs1209809979
AKR1A1
0.925 0.120 1 45568989 missense variant A/G snv 4.0E-06 3
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs940553638
ALDH2
0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 6
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs10983614
ASTN2
1.000 0.120 9 117306874 intron variant T/A;C snv 1
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs786203926
ATM
0.882 0.120 11 108227678 synonymous variant T/C snv 4
rs372883
BACH1
0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 5
rs7190458
BCAR1
1.000 0.120 16 75229763 synonymous variant G/A snv 5.1E-02 0.11 1
rs708224
BICD1
0.925 0.120 12 32283475 intron variant A/G snv 0.50 2
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs1799966
BRCA1
0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 8
rs11571836
BRCA2
0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 6