Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917762
rs121917762
TH
T 0.800 CausalMutation CLINVAR

dbSNP: rs121917763
rs121917763
TH
G 0.800 GeneticVariation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488

2013
dbSNP: rs121917763
rs121917763
TH
G 0.800 GeneticVariation CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643

2010
dbSNP: rs121917763
rs121917763
TH
G 0.800 GeneticVariation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs121917763
rs121917763
TH
G 0.800 GeneticVariation CLINVAR Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341

1996
dbSNP: rs121917763
rs121917763
TH
G 0.800 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643

2010
dbSNP: rs121917765
rs121917765
TH
A 0.800 CausalMutation CLINVAR

dbSNP: rs1288483479
rs1288483479
TH
T 0.800 GeneticVariation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715

2015
dbSNP: rs1288483479
rs1288483479
TH
T 0.800 GeneticVariation CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467

2010
dbSNP: rs1288483479
rs1288483479
TH
T 0.800 GeneticVariation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012
dbSNP: rs1288483479
rs1288483479
TH
T 0.800 GeneticVariation CLINVAR Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. 28087438

2017
dbSNP: rs28934581
rs28934581
TH
G 0.800 CausalMutation CLINVAR

dbSNP: rs45471299
rs45471299
TH
A 0.800 CausalMutation CLINVAR

dbSNP: rs80338892
rs80338892
TH
T 0.800 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs80338892
rs80338892
TH
T 0.800 CausalMutation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488

2013
dbSNP: rs80338892
rs80338892
TH
T 0.800 CausalMutation CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
dbSNP: rs80338892
rs80338892
TH
T 0.800 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs80338892
rs80338892
TH
T 0.800 CausalMutation CLINVAR A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425

1998
dbSNP: rs80338892
rs80338892
TH
T 0.800 CausalMutation CLINVAR [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 25224241

2014
dbSNP: rs104894434
rs104894434
GCH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs104894435
rs104894435
GCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516491
rs1057516491
TH
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516712
rs1057516712
TH
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516716
rs1057516716
TH ; MIR4686
CG 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516736
rs1057516736
TH
T 0.700 GeneticVariation CLINVAR