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rs398124586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs398124586(-;-)
Make rs398124586(-;CA)
ReferenceGRCh38 38.1/141
Chromosome6
Position80168989
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124586
ebirs398124586
HLIrs398124586
Exacrs398124586
Varsomers398124586
Maprs398124586
PheGenIrs398124586
hapmaprs398124586
1000 genomesrs398124586
hgdprs398124586
ensemblrs398124586
gopubmedrs398124586
geneviewrs398124586
scholarrs398124586
googlers398124586
pharmgkbrs398124586
gwascentralrs398124586
openSNPrs398124586
23andMers398124586
23andMe allrs398124586
SNP Nexus

SNPshotrs398124586
SNPdbers398124586
MSV3drs398124586
GWAS Ctlgrs398124586
Max Magnitude0
ClinVar
Risk rs398124586(;)
Alt rs398124586(;)
Reference rs398124586(CA;CA)
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.80878706_80878707delCA
CLNSRC ClinVar
CLNACC RCV000082757.3, RCV000179042.1,