Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs874945 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 14
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73