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rs398124600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124600(G;G)
Make rs398124600(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80203163
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124600
ebirs398124600
HLIrs398124600
Exacrs398124600
Varsomers398124600
Maprs398124600
PheGenIrs398124600
hapmaprs398124600
1000 genomesrs398124600
hgdprs398124600
ensemblrs398124600
gopubmedrs398124600
geneviewrs398124600
scholarrs398124600
googlers398124600
pharmgkbrs398124600
gwascentralrs398124600
openSNPrs398124600
23andMers398124600
23andMe allrs398124600
SNP Nexus

SNPshotrs398124600
SNPdbers398124600
MSV3drs398124600
GWAS Ctlgrs398124600
Max Magnitude0
ClinVar
Risk rs398124600(G;G)
Alt rs398124600(G;G)
Reference rs398124600(T;T)
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.80912880T>G
CLNSRC ClinVar Emory University
CLNACC RCV000082777.3, RCV000180384.1,