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rs398123496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123496(A;A)
Make rs398123496(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41410817
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123496
ebirs398123496
HLIrs398123496
Exacrs398123496
Varsomers398123496
Maprs398123496
PheGenIrs398123496
hapmaprs398123496
1000 genomesrs398123496
hgdprs398123496
ensemblrs398123496
gopubmedrs398123496
geneviewrs398123496
scholarrs398123496
googlers398123496
pharmgkbrs398123496
gwascentralrs398123496
openSNPrs398123496
23andMers398123496
23andMe allrs398123496
SNP Nexus

SNPshotrs398123496
SNPdbers398123496
MSV3drs398123496
GWAS Ctlgrs398123496
Max Magnitude0
ClinVar
Risk rs398123496(A;A)
Alt rs398123496(A;A)
Reference rs398123496(G;G)
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.41916722G>A
CLNSRC ClinVar
CLNACC RCV000079233.5, RCV000175639.1,