Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
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
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
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
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
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43