Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2808630 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 13
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs763110 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 30
rs768873896 0.790 0.160 1 11794822 missense variant C/G;T snv 8.0E-06; 2.4E-05 7
rs1110839 0.807 0.120 2 113236840 non coding transcript exon variant G/A;C;T snv 6
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs4848320 0.807 0.120 2 113253214 intron variant C/G;T snv 6
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs140693 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 10
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs568408 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 29
rs752742313 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48