Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs3212227 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306