Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
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
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs3213173 0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03 8
rs3213176 0.776 0.120 20 33676869 missense variant C/T snv 1.9E-02; 5.1E-06 1.8E-02 8