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rs398123497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123497(C;T)
Make rs398123497(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41410825
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123497
ebirs398123497
HLIrs398123497
Exacrs398123497
Varsomers398123497
Maprs398123497
PheGenIrs398123497
hapmaprs398123497
1000 genomesrs398123497
hgdprs398123497
ensemblrs398123497
gopubmedrs398123497
geneviewrs398123497
scholarrs398123497
googlers398123497
pharmgkbrs398123497
gwascentralrs398123497
openSNPrs398123497
23andMers398123497
23andMe allrs398123497
SNP Nexus

SNPshotrs398123497
SNPdbers398123497
MSV3drs398123497
GWAS Ctlgrs398123497
Max Magnitude0
ClinVar
Risk rs398123497(T;T)
Alt rs398123497(T;T)
Reference rs398123497(C;C)
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.41916730C>T
CLNSRC HGMD
CLNACC RCV000079234.3, RCV000175638.1,