PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Atypical hyperphenylalaninemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62508613
rs62508613
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C4025273
Disease:
Atypical hyperphenylalaninemia 		T 0.700 GeneticVariation CLINVAR