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rs398123508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123508(C;C)
Make rs398123508(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422370
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123508
ebirs398123508
HLIrs398123508
Exacrs398123508
Varsomers398123508
Maprs398123508
PheGenIrs398123508
hapmaprs398123508
1000 genomesrs398123508
hgdprs398123508
ensemblrs398123508
gopubmedrs398123508
geneviewrs398123508
scholarrs398123508
googlers398123508
pharmgkbrs398123508
gwascentralrs398123508
openSNPrs398123508
23andMers398123508
23andMe allrs398123508
SNP Nexus

SNPshotrs398123508
SNPdbers398123508
MSV3drs398123508
GWAS Ctlgrs398123508
Max Magnitude0
ClinVar
Risk rs398123508(C;C)
Alt rs398123508(C;C)
Reference rs398123508(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.41928275G>C
CLNSRC HGMD
CLNACC RCV000079257.4, RCV000179337.1,