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rs28934895

From SNPedia

Merged intors79761867
Maple Syrup Urine Disease
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Maple syrup urine disease
(C;G) 2.5 carrier for Maple Syrup Urine disease
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position80168945
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs28934895
ebirs28934895
HLIrs28934895
Exacrs28934895
Varsomers28934895
Maprs28934895
PheGenIrs28934895
hapmaprs28934895
1000 genomesrs28934895
hgdprs28934895
ensemblrs28934895
gopubmedrs28934895
geneviewrs28934895
scholarrs28934895
googlers28934895
pharmgkbrs28934895
gwascentralrs28934895
openSNPrs28934895
23andMers28934895
23andMe allrs28934895
SNP Nexus

SNPshotrs28934895
SNPdbers28934895
MSV3drs28934895
GWAS Ctlgrs28934895
StatusMerged into rs79761867
Max Magnitude5
rs28934895, also known as R183P, is a mutation (rare SNP) in the branched chain keto acid dehydrogenase E1, beta polypeptide BCKDHB gene. The common allele is rs28934895(G), encoding arginine (R) at amino acid position 183.

With a frequency of about 1 in 100 among Jews of European descent, the much rarer rs28934895(C) allele encodes a proline (P), and it is the most frequent mutation leading to Maple Syrup Urine Disease, accounting for perhaps 90% of the mutations in this population group. However, by itself the mutation does not predict the severity of the disease; note also that only homozygotes (rs28934895(C;C)) are at risk for the disease.[PMID 11509994OA-icon.png]

This SNP is often included in screening panels for carriers of deleterious mutations among Ashkenazi Jews, such as carrier screens for prospective parental couples.

OMIM248611
DescMaple Syrup Urine Disease, CLASSIC, TYPE IB
Variant0002
Relatedalso

Note also that 23andMe uses a different name for this SNP; in their terminology, rs28934895 is called i3002808.