Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs551060742 0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04 7
rs748491031 0.827 0.120 7 55200384 stop gained C/G;T snv 1.2E-05 8
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1047972 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1058808 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1408543226
XPA
0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 6
rs144779807 0.827 0.120 5 1268529 missense variant C/A;T snv 4.0E-06; 4.0E-05 7
rs148611340 0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 7