Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs187084 0.641 0.480 3 52227015 intron variant A/G snv 0.38 36
rs2699887 0.763 0.280 3 179148620 intron variant C/T snv 0.18 11
rs115160714 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 9
rs6443624 0.776 0.200 3 179179886 intron variant C/A snv 0.30 8
rs1063539 0.827 0.360 3 186857603 3 prime UTR variant G/A;C snv 0.10 5
rs28930073 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 5
rs112843513 0.851 0.120 3 133600730 3 prime UTR variant G/- del 4
rs1694964 0.925 0.080 3 84885341 intron variant G/T snv 4
rs397517202 0.851 0.320 3 179234230 missense variant A/G snv 4
rs201768983 0.925 0.080 3 195868640 missense variant C/T snv 1.2E-04 3.5E-05 2
rs2677764 0.925 0.080 3 179206019 intron variant C/A;T snv 2
rs3731127
XPC
0.925 0.080 3 14158973 intron variant G/A snv 4.0E-02 2
rs9838411 0.925 0.080 3 179169899 intron variant G/A snv 0.25 2
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 28
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs889312 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 14
rs11064 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 9
rs1045242 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 3
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs2234693 0.555 0.680 6 151842200 intron variant T/C snv 0.47 77