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rs398123513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123513(C;T)
Make rs398123513(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422739
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123513
ebirs398123513
HLIrs398123513
Exacrs398123513
Varsomers398123513
Maprs398123513
PheGenIrs398123513
hapmaprs398123513
1000 genomesrs398123513
hgdprs398123513
ensemblrs398123513
gopubmedrs398123513
geneviewrs398123513
scholarrs398123513
googlers398123513
pharmgkbrs398123513
gwascentralrs398123513
openSNPrs398123513
23andMers398123513
23andMe allrs398123513
SNP Nexus

SNPshotrs398123513
SNPdbers398123513
MSV3drs398123513
GWAS Ctlgrs398123513
Max Magnitude0
ClinVar
Risk rs398123513(T;T)
Alt rs398123513(T;T)
Reference rs398123513(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.41928644C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079265.3, RCV000179777.1,