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rs75215331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs75215331(C;T)
Make rs75215331(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133647906
GeneDBH
is asnp
is mentioned by
dbSNPrs75215331
dbSNP (classic)rs75215331
ClinGenrs75215331
ebirs75215331
HLIrs75215331
Exacrs75215331
Gnomadrs75215331
Varsomers75215331
LitVarrs75215331
Maprs75215331
PheGenIrs75215331
Biobankrs75215331
1000 genomesrs75215331
hgdprs75215331
ensemblrs75215331
geneviewrs75215331
scholarrs75215331
googlers75215331
pharmgkbrs75215331
gwascentralrs75215331
openSNPrs75215331
23andMers75215331
SNPshotrs75215331
SNPdbers75215331
MSV3drs75215331
GWAS Ctlgrs75215331
Max Magnitude0
ClinVar
Risk rs75215331(A;A) rs75215331(T;T)
Alt rs75215331(A;A) rs75215331(T;T)
Reference Rs75215331(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.136513028C>A
CLNSRC
CLNACC RCV000201828.1,