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rs398124571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124571(A;A)
Make rs398124571(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position80129188
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124571
ebirs398124571
HLIrs398124571
Exacrs398124571
Varsomers398124571
Maprs398124571
PheGenIrs398124571
hapmaprs398124571
1000 genomesrs398124571
hgdprs398124571
ensemblrs398124571
gopubmedrs398124571
geneviewrs398124571
scholarrs398124571
googlers398124571
pharmgkbrs398124571
gwascentralrs398124571
openSNPrs398124571
23andMers398124571
23andMe allrs398124571
SNP Nexus

SNPshotrs398124571
SNPdbers398124571
MSV3drs398124571
GWAS Ctlgrs398124571
Max Magnitude0
ClinVar
Risk rs398124571(A;A)
Alt rs398124571(A;A)
Reference rs398124571(G;G)
Significance Probable-Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80838905G>A
CLNSRC ClinVar Emory University
CLNACC RCV000082734.3, RCV000177427.1,