Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507526
PTPN11
1.000 0.160 12 112472972 missense variant T/A;G snv 1
rs397516797
PTPN11
1.000 0.160 12 112502222 missense variant C/T snv 4.0E-05 7.0E-05 1
rs564251686
PLAAT4
1.000 0.160 11 63544632 missense variant G/A snv 4.4E-05 6.3E-05 1
rs765642157
PTPN11
1.000 0.160 12 112472969 missense variant T/A;G snv 4.0E-06 1
rs80338836
PTPN11
1.000 0.160 12 112450357 inframe deletion GTG/- delins 1
rs869025574
PTPN11
1.000 0.160 12 112450360 inframe deletion GAT/- delins 1
rs886043790
PTPN11
1.000 0.160 12 112450355 missense variant A/G snv 4.0E-06 7.0E-06 1
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv 4
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 4
rs180177034
BRAF
0.882 0.200 7 140801536 missense variant C/G snv 3
rs397514553
NRAS
0.925 0.200 1 114716060 missense variant G/A snv 2
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 12
rs397507514
PTPN11
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
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv 9
rs121918463
PTPN11
0.851 0.240 12 112477651 missense variant T/A;C;G snv 6
rs397507506
PTPN11
0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs397507505
PTPN11
0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs267606990
RPL6 ; PTPN11
0.851 0.240 12 112419116 missense variant C/T snv 4
rs397507511
PTPN11
0.882 0.240 12 112450385 missense variant G/A;C snv 3