Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42