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
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
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
rs752681512 0.851 0.120 5 7897088 missense variant A/G snv 2.0E-05 4
rs1532268 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs7972 0.851 0.120 14 77326894 missense variant G/A snv 7.0E-02 7.0E-02 4
rs7975 0.763 0.320 14 77326864 stop gained G/A;C;T snv 0.31 0.32 9
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
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
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