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
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
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
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
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs3918242 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs2430561 0.590 0.760 12 68158742 intron variant T/A snv 0.36 50
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs1946518 0.602 0.760 11 112164735 intron variant T/G snv 0.60 46
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 37