Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs75246947 X 45746891 intron variant T/A snv 1
rs764575966 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 8
rs876658461 0.827 0.200 1 17023975 stop gained G/A snv 7
rs74315366 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 6
rs74315369 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 6
rs201286421 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 5
rs397516836 0.882 0.080 1 17024015 stop gained C/A;T snv 5
rs74315370 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 5
rs751000085 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 4
rs786203506 0.925 0.080 1 17028649 stop gained G/A;C;T snv 4
rs878854575 0.882 0.080 1 17033075 stop gained T/A snv 4
rs1060503753 0.925 0.080 1 17027790 stop gained T/A snv 3
rs1060503759 0.925 0.080 1 17024013 stop gained C/T snv 3
rs1060503762 0.925 0.080 1 17044820 stop gained C/T snv 3
rs1060503763 0.925 0.080 1 17027848 stop gained A/C snv 3
rs1553177676 0.925 0.080 1 17027784 stop gained G/A snv 3
rs1057520032
KIT
1.000 4 54727438 stop gained G/A;C snv 4.0E-06 2
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
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-06 144
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 52
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
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29