Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965073
rs121965073
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: rs121965073
rs121965073
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 1401056

1992

dbSNP: rs121965073
rs121965073
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: rs121965074
rs121965074
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: rs121965074
rs121965074
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: rs121965074
rs121965074
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: rs121965074
rs121965074
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. 8364576

1993

dbSNP: rs121965077
rs121965077
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995

dbSNP: rs121965077
rs121965077
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: rs121965078
rs121965078
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

2003

dbSNP: rs121965078
rs121965078
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. 11196105

2001

dbSNP: rs121965078
rs121965078
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: rs121965078
rs121965078
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

2001

dbSNP: rs80338894
rs80338894
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. 26565546

2016

dbSNP: rs80338894
rs80338894
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657

1996

dbSNP: rs80338894
rs80338894
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. 7942842

1994

dbSNP: rs80338894
rs80338894
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Tyrosinemia Type I 20301688

1993

dbSNP: rs80338894
rs80338894
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT

dbSNP: rs80338897
rs80338897
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. 11278491

2001

dbSNP: rs80338897
rs80338897
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: rs80338897
rs80338897
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: rs80338897
rs80338897
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation CLINVAR Tyrosinemia Type I 20301688

1993

dbSNP: rs80338898
rs80338898
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 CausalMutation 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
0.800 GeneticVariation CLINVAR N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias. 15187789

2004

dbSNP: rs80338898
rs80338898
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation CLINVAR Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. 11754109

2002