Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78