FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Tyrosinemias ×
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: rs121965074
rs121965074 		0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1994 1994
dbSNP: rs121965078
rs121965078 		0.925 0.120 15 80173143 missense variant A/G snv 7.0E-06
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs80338899
rs80338899 		0.925 0.120 15 80173093 stop gained G/A snv 8.0E-05 9.1E-05
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004