Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2304240 0.882 0.200 19 10338716 synonymous variant A/G snv 0.81 0.85 4
rs1883832 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs2231231 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 5
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
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs10190751 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 4
rs3135932 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 23
rs2230926 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs2274084 0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02 6
rs61756766 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 9
rs8177400 0.882 0.160 11 126292695 missense variant G/A;C;T snv 2.8E-03; 1.2E-05 4
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs138228187 0.925 0.120 11 126292650 missense variant C/T snv 4.0E-05 1.4E-05 3
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