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rs638405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal risk
(C;G) normal risk
(G;G) 2 2x increased ALZ risk in ApoE4 carriers
ReferenceGRCh38 38.1/141
Chromosome11
Position117293108
GeneBACE1
is asnp
is mentioned by
dbSNPrs638405
ebirs638405
HLIrs638405
Exacrs638405
Varsomers638405
Maprs638405
PheGenIrs638405
hapmaprs638405
1000 genomesrs638405
hgdprs638405
ensemblrs638405
gopubmedrs638405
geneviewrs638405
scholarrs638405
googlers638405
pharmgkbrs638405
gwascentralrs638405
openSNPrs638405
23andMers638405
23andMe allrs638405
SNP Nexus

SNPshotrs638405
SNPdbers638405
MSV3drs638405
GWAS Ctlgrs638405
GMAF0.4876
Max Magnitude2
? (C;C) (C;G) (G;G) 28
rs638405, a SNP also known as Val262, is located in exon 5 of the BACE1 gene, and is associated in some studies (but not others) with increased risk for late-onset Alzheimer's disease. The only statistically robust associations with increased risk for Alzheimer's disease appear to be seen in individuals who are also ApoE4 carriers.

For example, a meta-analysis pooling 4 Chinese and 1 Korean study found a significant association between the (G;G) - in orientation to dbSNP, not as published - genotype and Alzheimer's disease in ApoE4+ groups with an odds ratio of 1.99 (CI: 1.319-3.018, p=0.0044).[PMID 18182766] [PMID 16251468OA-icon.png] Survey of allelic expression using EST mining.


[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 23341828OA-icon.png] Association of BACE1 Gene Polymorphism with Cerebellar Volume but Not Cognitive Function in Normal Individuals [PMID 26828303] Meta-Analysis of BACE1 Gene rs638405 Polymorphism and the risk of Alzheimer's Disease in Caucasion and Asian population. [PMID 26846559] Relationship between the polymorphism in exon 5 of BACE1 gene and Alzheimer's disease.