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rs398123503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123503(C;T)
Make rs398123503(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41419282
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123503
ebirs398123503
HLIrs398123503
Exacrs398123503
Varsomers398123503
Maprs398123503
PheGenIrs398123503
hapmaprs398123503
1000 genomesrs398123503
hgdprs398123503
ensemblrs398123503
gopubmedrs398123503
geneviewrs398123503
scholarrs398123503
googlers398123503
pharmgkbrs398123503
gwascentralrs398123503
openSNPrs398123503
23andMers398123503
23andMe allrs398123503
SNP Nexus

SNPshotrs398123503
SNPdbers398123503
MSV3drs398123503
GWAS Ctlgrs398123503
Max Magnitude0
ClinVar
Risk rs398123503(T;T)
Alt rs398123503(T;T)
Reference rs398123503(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.41925187C>T
CLNSRC HGMD
CLNACC RCV000079247.3, RCV000178794.1,