Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997

1993

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. 11476670

2001

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. 11278491

2001

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.800 GeneticVariation CLINVAR Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1. 24756054

2014

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 9633815

1998

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. 8557261

1996

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.800 GeneticVariation CLINVAR Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene. 8076937

1994

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. 7550234

1995

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. 8364576

1993

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.800 GeneticVariation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. 7942842

1994

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. 8005583

1994

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. 7977370

1994

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.800 GeneticVariation CLINVAR Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 1401056

1992

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.800 GeneticVariation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.800 CausalMutation CLINVAR Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene. 8076937

1994

dbSNP: rs80338900
rs80338900
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. 11196105

2000

dbSNP: rs80338898
rs80338898
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. 8005583

1994

dbSNP: rs80338898
rs80338898
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. 7550234

1995

dbSNP: rs80338898
rs80338898
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.800 GeneticVariation CLINVAR Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. 21764616

2011

dbSNP: rs80338898
rs80338898
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 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: rs80338898
rs80338898
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997

1993