Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1046428 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 8
rs12921862 0.763 0.200 16 331927 intron variant C/A snv 0.18 10
rs370681 0.807 0.200 16 342461 intron variant C/T snv 0.48 6
rs80357138 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 9
rs874945 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 14
rs2107425 0.732 0.280 11 1999845 intron variant C/T snv 16
rs4758680 0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs7977932 0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs153109 0.623 0.600 16 28507775 intron variant T/C snv 0.43 37
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
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
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56