Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs767808984 0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05 9
rs557263543 8 38412508 3 prime UTR variant C/T snv 3
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 16
rs10009228 4 40354405 missense variant A/G snv 0.78 0.76 1
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs11672691 0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 3
rs3136797 0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02 10
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1443465532 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 6
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs17217772 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 10
rs4987188 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121917887 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10
rs201216664 0.851 0.080 17 51171503 missense variant A/G snv 5
rs55958994 0.925 0.080 12 52907235 intron variant C/T snv 0.12 3
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23
rs969139366 4 54277974 missense variant T/C snv 3.5E-05 3
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31