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rs5320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs5320(A;A)
Make rs5320(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133642351
GeneDBH
is asnp
is mentioned by
dbSNPrs5320
dbSNP (classic)rs5320
ClinGenrs5320
ebirs5320
HLIrs5320
Exacrs5320
Gnomadrs5320
Varsomers5320
LitVarrs5320
Maprs5320
PheGenIrs5320
Biobankrs5320
1000 genomesrs5320
hgdprs5320
ensemblrs5320
geneviewrs5320
scholarrs5320
googlers5320
pharmgkbrs5320
gwascentralrs5320
openSNPrs5320
23andMers5320
SNPshotrs5320
SNPdbers5320
MSV3drs5320
GWAS Ctlgrs5320
GMAF0.1056
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 20498626] Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson's disease among North Indians


[PMID 22513716] Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese


[PMID 22895683] Association of dopaminergic/GABAergic genes with attention deficit hyperactivity disorder in children



ClinVar
Risk rs5320(A;A)
Alt rs5320(A;A)
Reference Rs5320(G;G)
Significance Probable-non-pathogenic
Disease Dopamine beta hydroxylase deficiency
Variation info
Gene DBH
CLNDBN Dopamine beta hydroxylase deficiency
Reversed 0
HGVS NC_000009.11:g.136507473G>A
CLNSRC
CLNACC RCV000404226.1,