Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 117
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 9
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2066845 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 43
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 32
rs2227869 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 9
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
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
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
rs2854746 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 13
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
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 16
rs4245739 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 19
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 221
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 20