Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 16
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 12
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 8
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 8
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv 6
rs104894365
KRAS
0.827 0.320 12 25245345 missense variant C/T snv 3
rs727504426
CBL
0.882 0.320 11 119278508 splice acceptor variant A/G snv 3
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T 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
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 8
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv 5
rs727503108
KRAS
0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 3
rs869025194
RIT1
0.882 0.280 1 155904496 missense variant A/C;G;T 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
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 9