Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs2295080 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs2298881 0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs2303428 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 9
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs2808668
XPA
0.851 0.120 9 97690153 intron variant C/G;T snv 7
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs3810366 0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv 12
rs3811463 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 14
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4245739 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 21
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs5277 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 9
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs752681512 0.851 0.120 5 7897088 missense variant A/G snv 2.0E-05 4
rs753535070 0.851 0.120 1 155187350 missense variant T/C snv 8.0E-06 5
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38