Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs1351687973 0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05 3
rs535311760 0.925 0.120 1 3730979 missense variant G/A snv 1.2E-05; 8.2E-06 3
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs1555525126 0.925 0.120 17 7673749 missense variant T/C snv 3
rs867830180 0.925 0.120 20 63695147 missense variant G/A;T snv 3
rs61756766 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 9
rs2230926 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs8177400 0.882 0.160 11 126292695 missense variant G/A;C;T snv 2.8E-03; 1.2E-05 4
rs138228187 0.925 0.120 11 126292650 missense variant C/T snv 4.0E-05 1.4E-05 3
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs708486 0.925 0.120 14 52274253 intron variant A/G snv 0.35 3
rs1042752 0.925 0.120 11 111352386 3 prime UTR variant A/G snv 0.39 3
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs2071286 0.752 0.280 6 32212119 intron variant C/T snv 0.17 12
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614