Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs3775291 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37