Source: ALL
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: rs1057519220
rs1057519220
TH
A 0.700 GeneticVariation CLINVAR Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC. 27934587

2016
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: rs549435434
rs549435434
TH ; MIR4686
A 0.700 GeneticVariation CLINVAR Human gene-centered transcription factor networks for enhancers and disease variants. 25910213

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: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs121917764
rs121917764
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs1428589694
rs1428589694
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs1554922434
rs1554922434
TH
T 0.700 GeneticVariation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs1554922725
rs1554922725
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs28934580
rs28934580
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs367874223
rs367874223
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs370962049
rs370962049
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs755536257
rs755536257
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs762304556
rs762304556
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs763039181
rs763039181
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs763198914
rs763198914
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014