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

2017
dbSNP: rs80338901
rs80338901
FAH
A 0.700 CausalMutation CLINVAR Type 1 Tyrosinaemia. 27814443

2016
dbSNP: rs121965075
rs121965075
FAH
T 0.700 CausalMutation CLINVAR Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. 25681080

2015
dbSNP: rs786204683
rs786204683
FAH
T 0.700 GeneticVariation CLINVAR Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. 25681080

2015
dbSNP: rs80338895
rs80338895
FAH
T 0.700 CausalMutation CLINVAR Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? 25256450

2015
dbSNP: rs80338895
rs80338895
FAH
T 0.700 CausalMutation CLINVAR Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. 25681080

2015
dbSNP: rs1247460110
rs1247460110
FAH
A 0.700 GeneticVariation CLINVAR Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 23895425

2014
dbSNP: rs80338895
rs80338895
FAH
T 0.700 CausalMutation CLINVAR Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. 25081276

2014
dbSNP: rs80338901
rs80338901
FAH
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
A 0.700 CausalMutation CLINVAR Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 23895425

2014
dbSNP: rs1057517972
rs1057517972
FAH
G 0.700 GeneticVariation CLINVAR Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. 24016420

2013
dbSNP: rs121965075
rs121965075
FAH
T 0.700 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: rs121965075
rs121965075
FAH
T 0.700 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: rs80338895
rs80338895
FAH
T 0.700 CausalMutation CLINVAR The fate of tyrosinaemic Hungarian patients before the NTBC aera. 24555242

2013
dbSNP: rs80338895
rs80338895
FAH
T 0.700 CausalMutation CLINVAR Prediction of mutant mRNA splice isoforms by information theory-based exon definition. 23348723

2013
dbSNP: rs970505762
rs970505762
FAH
A 0.700 GeneticVariation CLINVAR [Mutation analysis of FAH gene in patients with tyrosinemia type 1]. 23927806

2013
dbSNP: rs1057516679
rs1057516679
FAH
A 0.700 GeneticVariation CLINVAR [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 23225041

2012
dbSNP: rs1057517084
rs1057517084
FAH
C 0.700 GeneticVariation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012
dbSNP: rs1555441703
rs1555441703
FAH
G 0.700 CausalMutation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012
dbSNP: rs750741137
rs750741137
FAH
C 0.700 GeneticVariation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012
dbSNP: rs781496816
rs781496816
FAH
T 0.700 GeneticVariation CLINVAR [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 23225041

2012
dbSNP: rs80338901
rs80338901
FAH
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
A 0.700 CausalMutation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012
dbSNP: rs970505762
rs970505762
FAH
A 0.700 GeneticVariation CLINVAR [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 23225041

2012
dbSNP: rs149052294
rs149052294
FAH
A 0.700 CausalMutation CLINVAR Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. 21764616

2011