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 Gene symbol: FAH. Disease: tyrosinaemia 1. 16521249

2005

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: rs121965073
rs121965073
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997

1993

dbSNP: rs121965073
rs121965073
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

2000

dbSNP: rs121965073
rs121965073
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: rs121965073
rs121965073
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. 7550234

1995

dbSNP: rs121965073
rs121965073
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: rs121965073
rs121965073
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 9633815

1998

dbSNP: rs121965073
rs121965073
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495

2009

dbSNP: rs121965073
rs121965073
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

2001

dbSNP: rs121965073
rs121965073
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.800 CausalMutation CLINVAR

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