Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv 5
rs11555293 1.000 0.080 4 57110126 missense variant C/T snv 1.4E-05 1
rs121918546 1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 1
rs1240948789 1.000 0.080 22 30889607 missense variant G/A snv 8.0E-06 7.0E-06 1
rs140461950 1.000 0.080 8 122951616 missense variant G/A;T snv 8.8E-05 3.5E-05 1
rs73420601 1.000 0.080 22 40404316 missense variant G/A snv 1.8E-04 3.5E-05 1
rs776906066
CBL
1.000 0.080 11 119206455 missense variant G/A snv 1
rs137854555
NF1
0.925 0.160 17 31261810 stop gained G/A snv 2
rs267606602
NF1
0.925 0.160 17 31221842 splice region variant A/G snv 2
rs121918465 0.827 0.200 12 112450407 missense variant A/C;G;T snv 7
rs121918461 0.827 0.240 12 112450362 missense variant A/C;G;T snv 12
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs397507506 0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs397507505 0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs397507511 0.882 0.240 12 112450385 missense variant G/A;C snv 3
rs121918457 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs121918466 0.752 0.280 12 112450416 missense variant A/G snv 14
rs397507547 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121918456 0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs397507510 0.776 0.280 12 112450361 missense variant G/A;C;T snv 8
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv 7