rs121918458, PTPN11

N. diseases: 8
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.
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.807 0.320 12 112489080 missense variant T/A;G snv 0.800 1.000 17 2001 2017
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 1.000 12 2002 2013
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 1.000 12 2002 2013
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 0