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rs398123493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123493(A;A)
Make rs398123493(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position41424584
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123493
ebirs398123493
HLIrs398123493
Exacrs398123493
Varsomers398123493
Maprs398123493
PheGenIrs398123493
hapmaprs398123493
1000 genomesrs398123493
hgdprs398123493
ensemblrs398123493
gopubmedrs398123493
geneviewrs398123493
scholarrs398123493
googlers398123493
pharmgkbrs398123493
gwascentralrs398123493
openSNPrs398123493
23andMers398123493
23andMe allrs398123493
SNP Nexus

SNPshotrs398123493
SNPdbers398123493
MSV3drs398123493
GWAS Ctlgrs398123493
Max Magnitude0
ClinVar
Risk rs398123493(A;A)
Alt rs398123493(A;A)
Reference rs398123493(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.41930489C>A
CLNSRC ClinVar Emory University
CLNACC RCV000079230.3, RCV000180521.1,