Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
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
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs16917496 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 21
rs314276 0.807 0.280 6 104960124 intron variant A/C snv 0.65 10
rs1834481 0.882 0.160 11 112153104 non coding transcript exon variant C/G snv 0.16 5