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rs398123486

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123486(A;A)
Make rs398123486(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41423039
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123486
ebirs398123486
HLIrs398123486
Exacrs398123486
Varsomers398123486
Maprs398123486
PheGenIrs398123486
hapmaprs398123486
1000 genomesrs398123486
hgdprs398123486
ensemblrs398123486
gopubmedrs398123486
geneviewrs398123486
scholarrs398123486
googlers398123486
pharmgkbrs398123486
gwascentralrs398123486
openSNPrs398123486
23andMers398123486
23andMe allrs398123486
SNP Nexus

SNPshotrs398123486
SNPdbers398123486
MSV3drs398123486
GWAS Ctlgrs398123486
Max Magnitude0
ClinVar
Risk rs398123486(A;A)
Alt rs398123486(A;A)
Reference rs398123486(G;G)
Significance Probable-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.41928944G>A
CLNSRC HGMD
CLNACC RCV000079217.3, RCV000180182.1,