Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 54
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
rs4149056 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 35
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1448674651 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs2306283 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs601338 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 15
rs4149117 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs2231137 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 12
rs1057910 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 12
rs1801265 0.763 0.280 1 97883329 missense variant A/G snv 0.28 12
rs67376798 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 9
rs7311358 0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 6
rs2032592 0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 5
rs4124874 0.851 0.120 2 233757013 intron variant T/A;G snv 5
rs2244613 0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 4