Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1126497 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 14
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1157 0.790 0.080 3 105576617 3 prime UTR variant G/A snv 0.16 7
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs11887534 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 29
rs11954856
APC
0.732 0.200 5 112751630 intron variant T/G snv 0.54 12
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs13959 0.790 0.080 9 72930966 synonymous variant G/A snv 0.48 0.42 7
rs1444424830 0.790 0.080 7 151078923 missense variant C/T snv 4.6E-06 7.0E-06 7
rs17577 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs20575 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 29
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs2072668 0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24 14
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2234767 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 30
rs2250889 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 24