Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update. 28755192

2017

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Type 1 Tyrosinaemia. 27814443

2016

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 23895425

2014

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. 25081276

2014

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. 23193487

2012

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. 21752152

2011

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. 23430822

2011

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay. 15638932

2005

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. 11754109

2002

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. 12203990

2002

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. 11278491

2001

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 9633815

1998

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657

1996

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean. 8821854

1996

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. 8028615

1994

dbSNP: rs80338901
rs80338901
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
A 0.700 CausalMutation CLINVAR Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997

1993