Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
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
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs2107425 0.732 0.280 11 1999845 intron variant C/T snv 16
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
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