Gene: FAH ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555441595
rs1555441595
FAH
0.710 GeneticVariation BEFREE Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. 7550234

1995
dbSNP: rs769550316
rs769550316
FAH
0.710 GeneticVariation BEFREE Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. 22884142

2012
dbSNP: rs121965073
rs121965073
FAH
T 0.800 CausalMutation CLINVAR

dbSNP: rs121965074
rs121965074
FAH
A 0.800 GeneticVariation CLINVAR Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657

1996
dbSNP: rs121965074
rs121965074
FAH
A 0.800 GeneticVariation CLINVAR Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. 8364576

1993
dbSNP: rs121965074
rs121965074
FAH
A 0.800 CausalMutation CLINVAR

dbSNP: rs121965074
rs121965074
FAH
A 0.800 GeneticVariation CLINVAR Crystal structure and mechanism of a carbon-carbon bond hydrolase. 10508789

1999
dbSNP: rs121965074
rs121965074
FAH
A 0.800 GeneticVariation CLINVAR Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. 11278491

2001
dbSNP: rs121965077
rs121965077
FAH
G 0.800 CausalMutation CLINVAR

dbSNP: rs121965078
rs121965078
FAH
G 0.800 CausalMutation CLINVAR

dbSNP: rs778387055
rs778387055
FAH
G 0.800 GeneticVariation CLINVAR Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657

1996
dbSNP: rs778387055
rs778387055
FAH
G 0.800 GeneticVariation CLINVAR Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 9633815

1998
dbSNP: rs778387055
rs778387055
FAH
G 0.800 GeneticVariation CLINVAR Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. 23430822

2011
dbSNP: rs778387055
rs778387055
FAH
G 0.800 GeneticVariation CLINVAR Crystal structure and mechanism of a carbon-carbon bond hydrolase. 10508789

1999
dbSNP: rs778387055
rs778387055
FAH
G 0.800 GeneticVariation CLINVAR Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997

1993
dbSNP: rs779040832
rs779040832
FAH
T 0.800 CausalMutation CLINVAR Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657

1996
dbSNP: rs779040832
rs779040832
FAH
T 0.800 CausalMutation CLINVAR Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. 8005583

1994
dbSNP: rs779040832
rs779040832
FAH
T 0.800 CausalMutation CLINVAR Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 9633815

1998
dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. 7942842

1994
dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. 23430822

2011
dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. 9101289

1997
dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. 23193487

2012
dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis. 22002443

2012
dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. 26565546

2016