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rs398124561

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124561(C;T)
Make rs398124561(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80273199
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124561
ebirs398124561
HLIrs398124561
Exacrs398124561
Varsomers398124561
Maprs398124561
PheGenIrs398124561
hapmaprs398124561
1000 genomesrs398124561
hgdprs398124561
ensemblrs398124561
gopubmedrs398124561
geneviewrs398124561
scholarrs398124561
googlers398124561
pharmgkbrs398124561
gwascentralrs398124561
openSNPrs398124561
23andMers398124561
23andMe allrs398124561
SNP Nexus

SNPshotrs398124561
SNPdbers398124561
MSV3drs398124561
GWAS Ctlgrs398124561
Max Magnitude0
ClinVar
Risk rs398124561(T;T)
Alt rs398124561(T;T)
Reference rs398124561(C;C)
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.80982916C>T
CLNSRC HGMD
CLNACC RCV000082720.3, RCV000180715.1,