Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs80338900
rs80338900
FAH
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
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: 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: rs80338898
rs80338898
FAH
T 0.800 GeneticVariation 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 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: rs80338900
rs80338900
FAH
A 0.800 GeneticVariation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012

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

2011

dbSNP: rs80338898
rs80338898
FAH
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
T 0.800 CausalMutation CLINVAR Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. 21764616

2011

dbSNP: rs121965073
rs121965073
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs121965074
rs121965074
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs121965077
rs121965077
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs121965078
rs121965078
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs778387055
rs778387055
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs779040832
rs779040832
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs80338894
rs80338894
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs80338897
rs80338897
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs80338898
rs80338898
FAH
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

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

2009

dbSNP: rs80338898
rs80338898
FAH
T 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
T 0.800 CausalMutation CLINVAR N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias. 15187789

2004

dbSNP: rs80338894
rs80338894
FAH
T 0.800 CausalMutation CLINVAR Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. 14691918

2003