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rs398123509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123509(A;C)
Make rs398123509(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422680
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123509
ebirs398123509
HLIrs398123509
Exacrs398123509
Varsomers398123509
Maprs398123509
PheGenIrs398123509
hapmaprs398123509
1000 genomesrs398123509
hgdprs398123509
ensemblrs398123509
gopubmedrs398123509
geneviewrs398123509
scholarrs398123509
googlers398123509
pharmgkbrs398123509
gwascentralrs398123509
openSNPrs398123509
23andMers398123509
23andMe allrs398123509
SNP Nexus

SNPshotrs398123509
SNPdbers398123509
MSV3drs398123509
GWAS Ctlgrs398123509
Max Magnitude0
ClinVar
Risk rs398123509(C;C)
Alt rs398123509(C;C)
Reference rs398123509(A;A)
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.41928585A>C
CLNSRC HGMD
CLNACC RCV000079260.3, RCV000179780.1,