Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516333
rs1057516333
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516408
rs1057516408
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516631
rs1057516631
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516631
rs1057516631
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516679
rs1057516679
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 23225041

2012
dbSNP: rs1057516684
rs1057516684
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516934
rs1057516934
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517084
rs1057517084
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		C 0.700 GeneticVariation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012
dbSNP: rs1057517113
rs1057517113
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517201
rs1057517201
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517341
rs1057517341
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517436
rs1057517436
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517972
rs1057517972
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. 24016420

2013
dbSNP: rs1057517972
rs1057517972
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1. 22802474

2010
dbSNP: rs1057517972
rs1057517972
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR Gene symbol: FAH. Disease: tyrosinaemia 1. 16521249

2005
dbSNP: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 CausalMutation CLINVAR Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. 25681080

2015
dbSNP: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		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
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		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: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 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: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 GeneticVariation 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: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 GeneticVariation CLINVAR Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. 9101289

1997
dbSNP: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 CausalMutation CLINVAR 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: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 GeneticVariation CLINVAR 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: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 GeneticVariation CLINVAR Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995
dbSNP: rs121965075
rs121965075
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		T 0.700 CausalMutation CLINVAR Self-induced correction of the genetic defect in tyrosinemia type I. 7929843

1994