Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123490(A;A)
Make rs398123490(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41424504
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123490
ebirs398123490
HLIrs398123490
Exacrs398123490
Varsomers398123490
Maprs398123490
PheGenIrs398123490
hapmaprs398123490
1000 genomesrs398123490
hgdprs398123490
ensemblrs398123490
gopubmedrs398123490
geneviewrs398123490
scholarrs398123490
googlers398123490
pharmgkbrs398123490
gwascentralrs398123490
openSNPrs398123490
23andMers398123490
23andMe allrs398123490
SNP Nexus

SNPshotrs398123490
SNPdbers398123490
MSV3drs398123490
GWAS Ctlgrs398123490
Max Magnitude0
ClinVar
Risk rs398123490(A;A)
Alt rs398123490(A;A)
Reference rs398123490(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.41930409G>A
CLNSRC HGMD
CLNACC RCV000079225.3, RCV000180522.2,