Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1046428 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 8
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2107425 0.732 0.280 11 1999845 intron variant C/T snv 16
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4758680 0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs7977932 0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs80357138 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 9
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
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
rs12921862 0.763 0.200 16 331927 intron variant C/A snv 0.18 10