Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
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
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
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
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45