FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Tyrosinemia, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965076
rs121965076
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		T 0.700 CausalMutation CLINVAR