Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781496816
rs781496816
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.700 GeneticVariation CLINVAR [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 23225041

2012

dbSNP: rs781496816
rs781496816
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.700 CausalMutation CLINVAR Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. 23430822

2011

dbSNP: rs781496816
rs781496816
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.700 GeneticVariation CLINVAR Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. 23430822

2011

dbSNP: rs781496816
rs781496816
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.700 CausalMutation CLINVAR Mutation screening for tyrosinaemia type I. 12555948

2002

dbSNP: rs781496816
rs781496816
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: rs781496816
rs781496816
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.700 GeneticVariation CLINVAR Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. 8723690

1996

dbSNP: rs781496816
rs781496816
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
T 0.700 CausalMutation CLINVAR Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. 8723690

1996