Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs889312 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 14
rs9502893 0.827 0.120 6 1339954 intergenic variant C/G;T snv 5
rs9564966 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 4
rs2094258 0.701 0.280 13 102844409 intron variant C/T snv 0.18 20
rs3790843 0.827 0.160 1 200041696 intron variant C/T snv 0.29 7
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93