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rs398124577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124577(A;T)
Make rs398124577(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80168885
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124577
ebirs398124577
HLIrs398124577
Exacrs398124577
Varsomers398124577
Maprs398124577
PheGenIrs398124577
hapmaprs398124577
1000 genomesrs398124577
hgdprs398124577
ensemblrs398124577
gopubmedrs398124577
geneviewrs398124577
scholarrs398124577
googlers398124577
pharmgkbrs398124577
gwascentralrs398124577
openSNPrs398124577
23andMers398124577
23andMe allrs398124577
SNP Nexus

SNPshotrs398124577
SNPdbers398124577
MSV3drs398124577
GWAS Ctlgrs398124577
Max Magnitude0
ClinVar
Risk rs398124577(T;T)
Alt rs398124577(T;T)
Reference rs398124577(A;A)
Significance 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.80878602A>T
CLNSRC ClinVar Emory University
CLNACC RCV000082742.3, RCV000179046.1,