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rs398124593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124593(C;C)
Make rs398124593(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position80200943
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124593
ebirs398124593
HLIrs398124593
Exacrs398124593
Varsomers398124593
Maprs398124593
PheGenIrs398124593
hapmaprs398124593
1000 genomesrs398124593
hgdprs398124593
ensemblrs398124593
gopubmedrs398124593
geneviewrs398124593
scholarrs398124593
googlers398124593
pharmgkbrs398124593
gwascentralrs398124593
openSNPrs398124593
23andMers398124593
23andMe allrs398124593
SNP Nexus

SNPshotrs398124593
SNPdbers398124593
MSV3drs398124593
GWAS Ctlgrs398124593
Max Magnitude0
ClinVar
Risk rs398124593(C;C)
Alt rs398124593(C;C)
Reference rs398124593(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.80910660T>C
CLNSRC HGMD
CLNACC RCV000082767.3, RCV000180018.1,