Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs1057516819
rs1057516819
TH
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516874
rs1057516874
TH
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517003
rs1057517003
TH
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517162
rs1057517162
TH
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517423
rs1057517423
TH
A 0.700 CausalMutation CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027

2011
dbSNP: rs1057517423
rs1057517423
TH
A 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012
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: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. 16049992

2005
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 10585338

1999
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. 9613851

1998
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: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. 8528210

1995
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 11246459

2000
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. 7814018

1995
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425

1998
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559

2012
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs1057520384
rs1057520384
TH
0.700 GeneticVariation UNIPROT Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467

2010