Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs873601 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs1799794 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 12
rs3808351 0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29 7
rs3808350 0.882 0.080 7 1086257 intron variant A/G;T snv 6
rs863224007
FH
0.882 0.320 1 241502490 missense variant C/T snv 4.0E-06 7.0E-06 4