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: rs1297118863
rs1297118863
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR [Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I]. 21117323 2010