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: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0023882
Disease: Little's Disease
Little's Disease 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0030353
Disease: Papilledema
Papilledema 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C4073188
Disease: Abnormality of the somatic nervous system
Abnormality of the somatic nervous system 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0027960
Disease: Nevus
Nevus 		0.700 0