Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 5
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 4
rs267607042 0.851 0.320 18 44951942 missense variant G/A;C snv 4
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 3
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 3
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 2
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 2
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 2
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 2
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 2
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 2
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 2
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 2
rs121918456 0.752 0.280 12 112473023 missense variant A/C;G snv 2
rs121918461 0.827 0.240 12 112450362 missense variant A/C;G;T snv 2
rs397507510 0.776 0.280 12 112450361 missense variant G/A;C;T snv 2
rs397507511 0.882 0.240 12 112450385 missense variant G/A;C snv 2
rs397507545 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 2
rs121918546 1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 1
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 1
rs137854556
NF1
0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 1
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 1
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 1
rs121918455 0.695 0.440 12 112477720 missense variant A/C;G snv 1
rs121918457 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 1