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
rs2976392
JRK ; PSCA
0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 15
rs8170 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 13
rs2291738 0.807 0.160 12 56421497 splice region variant T/C snv 0.43 0.39 8
rs4849887 0.807 0.080 2 120487546 intergenic variant T/A;C snv 7
rs2978974
JRK ; PSCA
0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38 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
rs614367 0.882 0.080 11 69513996 intergenic variant C/T snv 0.14 4
rs6828523 0.851 0.080 4 174925275 intron variant C/A snv 0.20 4
rs362962 0.882 0.080 6 146312682 intron variant T/C snv 0.39 4
rs7302060 0.882 0.080 12 56435308 intron variant T/A;C snv 3