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rs398124573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124573(G;G)
Make rs398124573(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80129228
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124573
ebirs398124573
HLIrs398124573
Exacrs398124573
Varsomers398124573
Maprs398124573
PheGenIrs398124573
hapmaprs398124573
1000 genomesrs398124573
hgdprs398124573
ensemblrs398124573
gopubmedrs398124573
geneviewrs398124573
scholarrs398124573
googlers398124573
pharmgkbrs398124573
gwascentralrs398124573
openSNPrs398124573
23andMers398124573
23andMe allrs398124573
SNP Nexus

SNPshotrs398124573
SNPdbers398124573
MSV3drs398124573
GWAS Ctlgrs398124573
Max Magnitude0
ClinVar
Risk rs398124573(G;G)
Alt rs398124573(G;G)
Reference rs398124573(T;T)
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.80838945T>G
CLNSRC ClinVar Emory University
CLNACC RCV000082737.3, RCV000177426.1,