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rs137852876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852876(C;G)
Make rs137852876(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422309
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs137852876
ebirs137852876
HLIrs137852876
Exacrs137852876
Varsomers137852876
Maprs137852876
PheGenIrs137852876
hapmaprs137852876
1000 genomesrs137852876
hgdprs137852876
ensemblrs137852876
gopubmedrs137852876
geneviewrs137852876
scholarrs137852876
googlers137852876
pharmgkbrs137852876
gwascentralrs137852876
openSNPrs137852876
23andMers137852876
23andMe allrs137852876
SNP Nexus

SNPshotrs137852876
SNPdbers137852876
MSV3drs137852876
GWAS Ctlgrs137852876
Max Magnitude0
OMIM608348
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852876(G;G)
Alt rs137852876(G;G)
Reference rs137852876(C;C)
Significance Pathogenic
Disease Maple syrup urine disease type 1A
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease type 1A
Reversed 0
HGVS NC_000019.9:g.41928214C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002481.2,