Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41