Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
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
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 181
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
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 73
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 51
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1239681664 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 15
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs12343867 0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs762613037 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 7