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rs137852874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852874(A;A)
Make rs137852874(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422262
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs137852874
ebirs137852874
HLIrs137852874
Exacrs137852874
Varsomers137852874
Maprs137852874
PheGenIrs137852874
hapmaprs137852874
1000 genomesrs137852874
hgdprs137852874
ensemblrs137852874
gopubmedrs137852874
geneviewrs137852874
scholarrs137852874
googlers137852874
pharmgkbrs137852874
gwascentralrs137852874
openSNPrs137852874
23andMers137852874
23andMe allrs137852874
SNP Nexus

SNPshotrs137852874
SNPdbers137852874
MSV3drs137852874
GWAS Ctlgrs137852874
Max Magnitude0
OMIM608348
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852874(A;A)
Alt rs137852874(A;A)
Reference rs137852874(G;G)
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.41928167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002479.2,