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rs129882

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs129882(C;T)
Make rs129882(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133658547
GeneDBH, DBH-AS1
is asnp
is mentioned by
dbSNPrs129882
dbSNP (classic)rs129882
ClinGenrs129882
ebirs129882
HLIrs129882
Exacrs129882
Gnomadrs129882
Varsomers129882
LitVarrs129882
Maprs129882
PheGenIrs129882
Biobankrs129882
1000 genomesrs129882
hgdprs129882
ensemblrs129882
geneviewrs129882
scholarrs129882
googlers129882
pharmgkbrs129882
gwascentralrs129882
openSNPrs129882
23andMers129882
SNPshotrs129882
SNPdbers129882
MSV3drs129882
GWAS Ctlgrs129882
GMAF0.2195
Max Magnitude0
? (C;C) (C;T) (T;T) 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 25975715] Identification and functional characterisation of a novel dopamine beta hydroxylase gene variant associated with attention deficit hyperactivity disorder


ClinVar
Risk rs129882(T;T)
Alt rs129882(T;T)
Reference Rs129882(C;C)
Significance Non-pathogenic
Disease Dopamine beta hydroxylase deficiency
Variation info
Gene DBH DBH-AS1
CLNDBN Dopamine beta hydroxylase deficiency
Reversed 0
HGVS NC_000009.11:g.136523669C>T
CLNSRC
CLNACC RCV000384217.1,