rs121918463, PTPN11

N. diseases: 6
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 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.710 1.000 6 2002 2012
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.700 0
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
12 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.700 0