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rs77576840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs77576840(C;T)
Make rs77576840(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133639848
GeneDBH
is asnp
is mentioned by
dbSNPrs77576840
dbSNP (classic)rs77576840
ClinGenrs77576840
ebirs77576840
HLIrs77576840
Exacrs77576840
Gnomadrs77576840
Varsomers77576840
LitVarrs77576840
Maprs77576840
PheGenIrs77576840
Biobankrs77576840
1000 genomesrs77576840
hgdprs77576840
ensemblrs77576840
geneviewrs77576840
scholarrs77576840
googlers77576840
pharmgkbrs77576840
gwascentralrs77576840
openSNPrs77576840
23andMers77576840
SNPshotrs77576840
SNPdbers77576840
MSV3drs77576840
GWAS Ctlgrs77576840
Max Magnitude0
OMIM609312
Desc
Variant0003
Relatedalso
ClinVar
Risk rs77576840(A;A) rs77576840(T;T)
Alt rs77576840(A;A) rs77576840(T;T)
Reference Rs77576840(C;C)
Significance Pathogenic
Disease Dopamine beta hydroxylase deficiency
Variation info
Gene DBH
CLNDBN Dopamine beta hydroxylase deficiency
Reversed 0
HGVS NC_000009.11:g.136504970C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001821.4,