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
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
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
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
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
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs121909224 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs121912666 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 34
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs1057519991 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 26
rs121912660 0.683 0.240 17 7673781 missense variant C/A;G;T snv 26
rs121913275 0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 26
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs587780070 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 24
rs786201057 0.677 0.400 17 7675995 missense variant G/A;C;T snv 24