Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2276466 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 15
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
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
rs2689154 0.882 0.080 1 238745053 intergenic variant C/A;G;T snv 3
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
rs2854746 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 14
rs3130 0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv 6
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs34743033 0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs373129709 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 7
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs3809865 0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv 11
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4072037 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 22
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
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
rs56250509 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 10
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64