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
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
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
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
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
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs763110 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 30
rs371074389 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 16
rs766914563 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 16
rs781172058 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 16
rs778036161 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 9