TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917762
rs121917762
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121917765
rs121917765
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28934581
rs28934581
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs45471299
rs45471299
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs45471299
rs45471299
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057516491
rs1057516491
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516712
rs1057516712
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516716
rs1057516716
Entrez Id: 7054;100616126
Gene Symbol: TH;MIR4686
TH;MIR4686
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		CG 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516736
rs1057516736
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516819
rs1057516819
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516874
rs1057516874
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517003
rs1057517003
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517162
rs1057517162
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1264884607
rs1264884607
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs1266265578
rs1266265578
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1273610334
rs1273610334
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554922441
rs1554922441
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554922593
rs1554922593
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554923004
rs1554923004
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		GC 0.700 GeneticVariation CLINVAR
dbSNP: rs1554923121
rs1554923121
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554923305
rs1554923305
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554923317
rs1554923317
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554923513
rs1554923513
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554923513
rs1554923513
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554923802
rs1554923802
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR