Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs4149056 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs8170 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 13
rs10941679 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 11
rs1008805 0.851 0.160 15 51257402 intron variant G/A snv 0.64 7
rs50872 0.827 0.120 19 45359191 intron variant A/G;T snv 5
rs1408080623 0.851 0.080 11 101128058 missense variant G/A snv 5