Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
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
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs11549467 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs7213430 0.851 0.080 17 61682813 3 prime UTR variant G/A snv 0.61 6
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs1057519911 0.776 0.160 22 21772875 missense variant C/T snv 10
rs1059234 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 10
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs121913482 0.630 0.680 4 1801837 missense variant C/T snv 45
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42