Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs3787016 0.677 0.280 19 1090804 intron variant A/G snv 0.78 24
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1110839 0.807 0.120 2 113236840 non coding transcript exon variant G/A;C;T snv 6
rs4848320 0.807 0.120 2 113253214 intron variant C/G;T snv 6
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs768873896 0.790 0.160 1 11794822 missense variant C/G;T snv 8.0E-06; 2.4E-05 7
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs140693 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 10
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs752742313 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2808630 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 13
rs568408 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 29
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs763110 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 30