Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs8034191 0.695 0.440 15 78513681 intron variant T/C snv 0.27 24
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs11549467 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1322648460 0.776 0.320 11 35139332 frameshift variant G/- delins 9
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54