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rs398123504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123504(-;-)
Make rs398123504(-;T)
Make rs398123504(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422257
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123504
ebirs398123504
HLIrs398123504
Exacrs398123504
Varsomers398123504
Maprs398123504
PheGenIrs398123504
hapmaprs398123504
1000 genomesrs398123504
hgdprs398123504
ensemblrs398123504
gopubmedrs398123504
geneviewrs398123504
scholarrs398123504
googlers398123504
pharmgkbrs398123504
gwascentralrs398123504
openSNPrs398123504
23andMers398123504
23andMe allrs398123504
SNP Nexus

SNPshotrs398123504
SNPdbers398123504
MSV3drs398123504
GWAS Ctlgrs398123504
Max Magnitude0
ClinVar
Risk rs398123504(T;T)
Alt rs398123504(T;T)
Reference rs398123504(;)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928163dupT
CLNSRC ClinVar
CLNACC RCV000079252.3, RCV000179336.1,