CPN1, carboxypeptidase N subunit 1, 1369

N. diseases: 31; N. variants: 8
Disease: Carboxypeptidase N Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61751507
rs61751507 		1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02
CUI: C0398782
Disease: Carboxypeptidase N Deficiency
Carboxypeptidase N Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2003 2003