Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
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
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 46
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 23
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 23
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 17
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 11
rs917411291 0.851 0.360 19 544072 start lost A/C;G snv 9
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv 9
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 9
rs121908585 0.827 0.080 4 54285926 missense variant A/T snv 9
rs10509681 0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02 8
rs121913516
KIT
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 6
rs148634289 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 6
rs1285675735 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 6
rs121913348 0.763 0.480 7 140781617 missense variant C/A;G;T snv 5
rs750380279 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 4
rs1058930 0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02 4
rs1057519711
KIT
0.882 0.240 4 54733168 missense variant T/A snv 4