Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs531564 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 27
rs2808668
XPA
0.851 0.120 9 97690153 intron variant C/G;T snv 7
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs9589207 0.925 0.080 13 91351335 mature miRNA variant G/A;C snv 5.4E-03; 4.0E-06 4
rs1126772 0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16 5
rs4754 0.752 0.360 4 87981540 missense variant T/A;C snv 0.32 12
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs3743073 0.807 0.120 15 78617197 intron variant G/T snv 0.61 11
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
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs11655237 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs937283 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs16260 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188