Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2001 2017
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.730 1.000 11 2001 2009
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		0.700 1.000 7 2001 2007
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		0.700 1.000 7 2001 2007
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0