rs397507545, PTPN11

N. diseases: 20
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of coagulation
CUI: C1846821
Disease: Abnormality of coagulation
15 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
12 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 17 2001 2017
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 13 2003 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.710 1.000 12 2003 2019
Gastroesophageal reflux disease
CUI: C0017168
Disease: Gastroesophageal reflux disease
52 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
Short stature
CUI: C0349588
Disease: Short stature
292 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
Adult Hodgkin Lymphoma
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
27 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
Childhood Hodgkin Lymphoma
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
29 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
Hodgkin Disease
CUI: C0019829
Disease: Hodgkin Disease
148 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2019 2019