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rs398123510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs398123510(-;-)
Make rs398123510(-;GT)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422684
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123510
ebirs398123510
HLIrs398123510
Exacrs398123510
Varsomers398123510
Maprs398123510
PheGenIrs398123510
hapmaprs398123510
1000 genomesrs398123510
hgdprs398123510
ensemblrs398123510
gopubmedrs398123510
geneviewrs398123510
scholarrs398123510
googlers398123510
pharmgkbrs398123510
gwascentralrs398123510
openSNPrs398123510
23andMers398123510
23andMe allrs398123510
SNP Nexus

SNPshotrs398123510
SNPdbers398123510
MSV3drs398123510
GWAS Ctlgrs398123510
Max Magnitude0
ClinVar
Risk rs398123510(;)
Alt rs398123510(;)
Reference rs398123510(TG;TG)
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.41928589_41928590delGT
CLNSRC ClinVar
CLNACC RCV000079261.3, RCV000179781.1,