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rs398124581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124581(A;A)
Make rs398124581(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position80168905
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124581
ebirs398124581
HLIrs398124581
Exacrs398124581
Varsomers398124581
Maprs398124581
PheGenIrs398124581
hapmaprs398124581
1000 genomesrs398124581
hgdprs398124581
ensemblrs398124581
gopubmedrs398124581
geneviewrs398124581
scholarrs398124581
googlers398124581
pharmgkbrs398124581
gwascentralrs398124581
openSNPrs398124581
23andMers398124581
23andMe allrs398124581
SNP Nexus

SNPshotrs398124581
SNPdbers398124581
MSV3drs398124581
GWAS Ctlgrs398124581
Max Magnitude0
ClinVar
Risk rs398124581(A,G,T;A,G,T)
Alt rs398124581(A,G,T;A,G,T)
Reference rs398124581(C;C)
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.80878622C>A; NC_000006.11:g.80878622C>G; NC_000006.11:g.80878622C>T
CLNSRC ClinVar Emory University
CLNACC RCV000082746.3, RCV000179040.1, RCV000082747.3, RCV000179045.1, RCV000082748.3, RCV000179043.1,