Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 16
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 16
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv 15
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 12
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 9