Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs5751129 0.752 0.320 22 41619761 intron variant C/T snv 0.69 14
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
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
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs863224682 1.000 0.080 17 7669655 missense variant C/A;T snv 4.0E-06 2
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs7726159 0.790 0.160 5 1282204 intron variant C/A snv 0.29 10
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1202989817 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 18
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 37
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs3136797 0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02 10
rs10254120 0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02 5
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19