Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs12921862 0.763 0.200 16 331927 intron variant C/A snv 0.18 10
rs7977932 0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs4758680 0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs80357138 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 9
rs370681 0.807 0.200 16 342461 intron variant C/T snv 0.48 6