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
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
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
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
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48