FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Tyrosinemia, Type I ×
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: rs779040832
rs779040832 		1.000 0.120 15 80180188 missense variant C/T snv 1.6E-05; 4.5E-05 7.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1992 2009