Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23
rs2057482 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 21
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 16
rs969139366 4 54277974 missense variant T/C snv 3.5E-05 3
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs11568818 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs104893626 0.827 0.280 2 136114915 stop gained G/C snv 11
rs1443465532 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 6
rs1057519771 1.000 0.080 9 130872201 missense variant G/C snv 2
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs4987188 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs2016347 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 9
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs375874539 0.732 0.320 17 7674237 missense variant G/A;C snv 15
rs587782529 0.851 0.200 17 7670700 missense variant G/A;C snv 8
rs773862672 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6