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rs398123491

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123491(A;A)
Make rs398123491(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position41424572
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123491
ebirs398123491
HLIrs398123491
Exacrs398123491
Varsomers398123491
Maprs398123491
PheGenIrs398123491
hapmaprs398123491
1000 genomesrs398123491
hgdprs398123491
ensemblrs398123491
gopubmedrs398123491
geneviewrs398123491
scholarrs398123491
googlers398123491
pharmgkbrs398123491
gwascentralrs398123491
openSNPrs398123491
23andMers398123491
23andMe allrs398123491
SNP Nexus

SNPshotrs398123491
SNPdbers398123491
MSV3drs398123491
GWAS Ctlgrs398123491
Max Magnitude0
ClinVar
Risk rs398123491(A,T;A,T)
Alt rs398123491(A,T;A,T)
Reference rs398123491(C;C)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41930477C>A
CLNSRC ClinVar Emory University
CLNACC RCV000079227.3, RCV000180524.1,