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rs398124592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124592(G;T)
Make rs398124592(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80200939
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124592
ebirs398124592
HLIrs398124592
Exacrs398124592
Varsomers398124592
Maprs398124592
PheGenIrs398124592
hapmaprs398124592
1000 genomesrs398124592
hgdprs398124592
ensemblrs398124592
gopubmedrs398124592
geneviewrs398124592
scholarrs398124592
googlers398124592
pharmgkbrs398124592
gwascentralrs398124592
openSNPrs398124592
23andMers398124592
23andMe allrs398124592
SNP Nexus

SNPshotrs398124592
SNPdbers398124592
MSV3drs398124592
GWAS Ctlgrs398124592
Max Magnitude0
ClinVar
Risk rs398124592(T;T)
Alt rs398124592(T;T)
Reference rs398124592(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.80910656G>T
CLNSRC ClinVar Emory University
CLNACC RCV000082766.3, RCV000180017.1,