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rs398124589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124589(A;A)
Make rs398124589(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position80169031
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124589
ebirs398124589
HLIrs398124589
Exacrs398124589
Varsomers398124589
Maprs398124589
PheGenIrs398124589
hapmaprs398124589
1000 genomesrs398124589
hgdprs398124589
ensemblrs398124589
gopubmedrs398124589
geneviewrs398124589
scholarrs398124589
googlers398124589
pharmgkbrs398124589
gwascentralrs398124589
openSNPrs398124589
23andMers398124589
23andMe allrs398124589
SNP Nexus

SNPshotrs398124589
SNPdbers398124589
MSV3drs398124589
GWAS Ctlgrs398124589
Max Magnitude0
ClinVar
Risk rs398124589(A;A)
Alt rs398124589(A;A)
Reference rs398124589(G;G)
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.80878748G>A
CLNSRC ClinVar
CLNACC RCV000082761.3, RCV000179048.1,