Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
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
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
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
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
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
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs3803662 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs2981582 0.695 0.360 10 121592803 intron variant A/G snv 0.58 21
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18