Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1051690 0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83 4
rs4998557 0.851 0.080 21 31662579 intron variant G/A snv 0.22 4
rs12904 0.827 0.160 1 155134221 3 prime UTR variant G/A snv 0.40 5
rs115797771 0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 6
rs1924966 0.807 0.080 13 72432915 intergenic variant T/G snv 0.33 6
rs4963 0.827 0.120 4 2915035 missense variant C/G;T snv 0.20 0.18 6
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
rs6498486 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 8
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
rs822395 0.776 0.240 3 186849018 intron variant C/A;G snv 10
rs12733285 0.776 0.120 1 202952912 intron variant C/T snv 0.26 12
rs1342387 0.776 0.120 1 202945228 intron variant T/C snv 0.53 12
rs773919809 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 13
rs201745983 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 14
rs2854746 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 14
rs4135385 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 14
rs2276466 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 15
rs3747093 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs7758229 0.732 0.120 6 160419220 intron variant G/A;T snv 16
rs3765524 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 17
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs148704956 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs16260 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19