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rs137852875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852875(C;G)
Make rs137852875(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422704
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs137852875
ebirs137852875
HLIrs137852875
Exacrs137852875
Varsomers137852875
Maprs137852875
PheGenIrs137852875
hapmaprs137852875
1000 genomesrs137852875
hgdprs137852875
ensemblrs137852875
gopubmedrs137852875
geneviewrs137852875
scholarrs137852875
googlers137852875
pharmgkbrs137852875
gwascentralrs137852875
openSNPrs137852875
23andMers137852875
23andMe allrs137852875
SNP Nexus

SNPshotrs137852875
SNPdbers137852875
MSV3drs137852875
GWAS Ctlgrs137852875
Max Magnitude0
OMIM608348
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852875(G;G)
Alt rs137852875(G;G)
Reference rs137852875(C;C)
Significance Pathogenic
Disease Maple syrup urine disease type 1A not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease type 1A not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928609C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002480.2, RCV000079264.3, RCV000179776.1,