{{Rsnum
|rsid=638405
|Gene=BACE1
|Chromosome=11
|position=117293108
|Orientation=plus
|ReferenceAllele=G
|GMAF=0.4876
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=BACE1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 44.4 | 47.6 | 7.9
| HCB | 13.3 | 53.3 | 33.3
| JPT | 13.6 | 29.5 | 56.8
| YRI | 21.0 | 50.0 | 29.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 13.3 | 53.3 | 33.3
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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 Auto
|PMID=16251468
|Title=Survey of allelic expression using EST mining.
|OA=1
}}

{{PMID Auto
|PMID=17601350
|Title=A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
|OA=1
}}
{{PMID Auto
|PMID=23341828
|Title=Association of BACE1 Gene Polymorphism with Cerebellar Volume but Not Cognitive Function in Normal Individuals
|OA=1
}}