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rs398123499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123499(C;T)
Make rs398123499(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41411004
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123499
ebirs398123499
HLIrs398123499
Exacrs398123499
Varsomers398123499
Maprs398123499
PheGenIrs398123499
hapmaprs398123499
1000 genomesrs398123499
hgdprs398123499
ensemblrs398123499
gopubmedrs398123499
geneviewrs398123499
scholarrs398123499
googlers398123499
pharmgkbrs398123499
gwascentralrs398123499
openSNPrs398123499
23andMers398123499
23andMe allrs398123499
SNP Nexus

SNPshotrs398123499
SNPdbers398123499
MSV3drs398123499
GWAS Ctlgrs398123499
Max Magnitude0
ClinVar
Risk rs398123499(T;T)
Alt rs398123499(T;T)
Reference rs398123499(C;C)
Significance Probable-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.41916909C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079238.3, RCV000177087.1,