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rs137852872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852872(G;G)
Make rs137852872(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41424496
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs137852872
ebirs137852872
HLIrs137852872
Exacrs137852872
Varsomers137852872
Maprs137852872
PheGenIrs137852872
hapmaprs137852872
1000 genomesrs137852872
hgdprs137852872
ensemblrs137852872
gopubmedrs137852872
geneviewrs137852872
scholarrs137852872
googlers137852872
pharmgkbrs137852872
gwascentralrs137852872
openSNPrs137852872
23andMers137852872
23andMe allrs137852872
SNP Nexus

SNPshotrs137852872
SNPdbers137852872
MSV3drs137852872
GWAS Ctlgrs137852872
Max Magnitude0
OMIM608348
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852872(G;G)
Alt rs137852872(G;G)
Reference rs137852872(T;T)
Significance Pathogenic
Disease MAPLE SYRUP URINE DISEASE Maple syrup urine disease type 1A
Variation info
Gene BCKDHA
CLNDBN MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA Maple syrup urine disease type 1A
Reversed 0
HGVS NC_000019.9:g.41930401T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002476.2, RCV000002477.2,