Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
rs3790843 0.827 0.160 1 200041696 intron variant C/T snv 0.29 7
rs587778883 0.807 0.200 3 37025648 frameshift variant A/- del 7
rs11655237 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs2094258 0.701 0.280 13 102844409 intron variant C/T snv 0.18 20
rs889312 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 14
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134