DBH, dopamine beta-hydroxylase, 1621

N. diseases: 202; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606760
rs267606760
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		0.800 GeneticVariation UNIPROT Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 11857564 2002
dbSNP: rs267606760
rs267606760
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606761
rs267606761
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		0.800 GeneticVariation UNIPROT Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 11857564 2002
dbSNP: rs267606761
rs267606761
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs77576840
rs77576840
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		0.800 GeneticVariation UNIPROT Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 11857564 2002
dbSNP: rs77576840
rs77576840
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1108581
rs1108581
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0016529
Disease:
Forced expiratory volume function 		A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs1108581
rs1108581
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		A 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs1108581
rs1108581
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C3548479
Disease:
response to bronchodilator 		A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs3025380
rs3025380
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0428886
Disease:
Mean blood pressure 		C 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
dbSNP: rs3025383
rs3025383
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0016529
Disease:
Forced expiratory volume function 		T 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs3025388
rs3025388
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C3548479
Disease:
response to bronchodilator 		A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs3025393
rs3025393
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs3025393
rs3025393
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs74853476
rs74853476
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		C 0.700 CausalMutation CLINVAR A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans. 14598346 2003
dbSNP: rs74853476
rs74853476
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		C 0.700 CausalMutation CLINVAR Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. 21209083 2011
dbSNP: rs74853476
rs74853476
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		C 0.700 CausalMutation CLINVAR Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency. 27778639 2017
dbSNP: rs74853476
rs74853476
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		C 0.700 CausalMutation CLINVAR Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 11857564 2002
dbSNP: rs74853476
rs74853476
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		C 0.700 CausalMutation CLINVAR Neurocognitive function in dopamine-β-hydroxylase deficiency. 21471955 2011
dbSNP: rs74853476
rs74853476
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		C 0.700 CausalMutation CLINVAR DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome. 15060114 2004
dbSNP: rs75215331
rs75215331
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863225244
rs863225244
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs863225245
rs863225245
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C4746777
Disease:
ORTHOSTATIC HYPOTENSION 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1611115
rs1611115
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0030567
Disease:
Parkinson Disease 		0.040 GeneticVariation BEFREE However, the rs1611115 and rs1108580 did not show association with PD; plasma DBH activity was not significantly different between patients and controls (p-value > 0.05). 31082450 2019
dbSNP: rs1611115
rs1611115
Entrez Id: 1621
Gene Symbol: DBH
DBH
CUI: C0030567
Disease:
Parkinson Disease 		0.040 GeneticVariation BEFREE This meta-analysis suggests that the DBH rs1611115 genetic polymorphism might not be associated with PD. 30187307 2018