Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs121917762
rs121917762
TH
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

dbSNP: rs121917763
rs121917763
TH
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

dbSNP: rs121917765
rs121917765
TH
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

dbSNP: rs1288483479
rs1288483479
TH
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

dbSNP: rs28934581
rs28934581
TH
0.800 GeneticVariation UNIPROT 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 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

dbSNP: rs80338892
rs80338892
TH
0.800 GeneticVariation UNIPROT 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 [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 25224241

2014

dbSNP: rs121917762
rs121917762
TH
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013

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
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013

dbSNP: rs121917765
rs121917765
TH
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013

dbSNP: rs1288483479
rs1288483479
TH
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013

dbSNP: rs28934581
rs28934581
TH
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013

dbSNP: rs80338892
rs80338892
TH
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013

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

2013

dbSNP: rs121917762
rs121917762
TH
0.800 GeneticVariation UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559

2012

dbSNP: rs121917762
rs121917762
TH
0.800 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012

dbSNP: rs121917762
rs121917762
TH
0.800 GeneticVariation UNIPROT A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 21940685

2012

dbSNP: rs121917763
rs121917763
TH
0.800 GeneticVariation UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559

2012

dbSNP: rs121917763
rs121917763
TH
0.800 GeneticVariation UNIPROT A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 21940685

2012

dbSNP: rs121917763
rs121917763
TH
0.800 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012

dbSNP: rs121917765
rs121917765
TH
0.800 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012