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rs398124572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs398124572(-;-)
Make rs398124572(-;AC)
ReferenceGRCh38 38.1/141
Chromosome6
Position80106726
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124572
ebirs398124572
HLIrs398124572
Exacrs398124572
Varsomers398124572
Maprs398124572
PheGenIrs398124572
hapmaprs398124572
1000 genomesrs398124572
hgdprs398124572
ensemblrs398124572
gopubmedrs398124572
geneviewrs398124572
scholarrs398124572
googlers398124572
pharmgkbrs398124572
gwascentralrs398124572
openSNPrs398124572
23andMers398124572
23andMe allrs398124572
SNP Nexus

SNPshotrs398124572
SNPdbers398124572
MSV3drs398124572
GWAS Ctlgrs398124572
Max Magnitude0
ClinVar
Risk rs398124572(;)
Alt rs398124572(;)
Reference rs398124572(AC;AC)
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.80816443_80816444delAC
CLNSRC ClinVar
CLNACC RCV000082736.3, RCV000173587.1,