Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
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
rs12921862 0.763 0.200 16 331927 intron variant C/A snv 0.18 10
rs153109 0.623 0.600 16 28507775 intron variant T/C snv 0.43 37
rs370681 0.807 0.200 16 342461 intron variant C/T snv 0.48 6
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
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
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
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
rs874945 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 14
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs2107425 0.732 0.280 11 1999845 intron variant C/T snv 16
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28