Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1056827 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs11685387 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 9
rs9288518 0.776 0.240 2 216196997 intron variant A/G snv 0.35 9
rs11892031 0.882 0.120 2 233656637 intron variant A/C;T snv 5
rs17863783 0.827 0.200 2 233693631 synonymous variant G/T snv 3.8E-02 5.5E-02 5
rs715021 0.882 0.120 2 221196620 intergenic variant C/G snv 0.26 3
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs10936599 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs1043210477 0.701 0.520 3 49358250 missense variant G/A snv 19
rs6443624 0.776 0.200 3 179179886 intron variant C/A snv 0.30 8
rs125701 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 7
rs1208415127 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 6
rs2293607 0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv 6
rs35592567 0.827 0.160 3 189896847 3 prime UTR variant C/G;T snv 6
rs754554026 0.827 0.160 3 37028864 missense variant G/A;C snv 2.8E-05 7.0E-06 5
rs710521 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 4