Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111638916 0.925 0.080 X 108084839 3 prime UTR variant G/A snv 3
rs12083239 0.925 0.080 1 39985357 intergenic variant G/A;C snv 3
rs154268 0.925 0.080 5 40795766 intron variant C/T snv 0.69 3
rs2172362 0.925 0.080 1 39829228 intergenic variant T/C snv 0.58 3
rs2269772 0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19 6
rs230310 0.925 0.080 1 39842047 intron variant A/G;T snv 3
rs3130 0.882 0.080 4 15968315 3 prime UTR variant T/A;C snv 6
rs377566281 0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05 3
rs461404 0.925 0.080 5 40799438 upstream gene variant G/A snv 0.70 3
rs5273 0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02 6
rs56288038 0.925 0.080 5 132483914 3 prime UTR variant G/C snv 2.0E-05 7.0E-06 3
rs759397296 0.925 0.080 7 143294294 missense variant T/C snv 4.0E-06 3
rs9589207 0.925 0.080 13 91351335 mature miRNA variant G/A;C snv 5.4E-03; 4.0E-06 4
rs10074991 0.851 0.120 5 40790449 intron variant G/A snv 0.31 7
rs12733285 0.776 0.120 1 202952912 intron variant C/T snv 0.26 12
rs13361707 0.882 0.120 5 40791782 intron variant C/T snv 0.31 7
rs1342387 0.776 0.120 1 202945228 intron variant T/C snv 0.53 12
rs17664 0.882 0.120 2 172504503 3 prime UTR variant A/G;T snv 4
rs2675 0.882 0.120 3 124763266 3 prime UTR variant T/G snv 0.17 4
rs2808668
XPA
0.851 0.120 9 97690153 intron variant C/G;T snv 7
rs353639 0.851 0.120 11 35162817 intron variant T/G snv 0.32 5
rs3743073 0.807 0.120 15 78617197 intron variant G/T snv 0.61 11
rs4719839 0.882 0.120 7 25946953 downstream gene variant G/A;C snv 4
rs4796030 0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 6
rs748491031 0.827 0.120 7 55200384 stop gained C/G;T snv 1.2E-05 8