rs7982

This is a synonymous variant in the CLU gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Alzheimer disease, educational attainment

Kulminski AM et al. “Pleiotropic predisposition to Alzheimer's disease and educational attainment: insights from the summary statistics analysis.” Geroscience 44(1):265-280 (2022)

Allele A

OR 78.66

p 3.0e-16

N 4,029

Large GWAS

Alzheimer disease, dementia, family history of Alzheimer’s disease

Zhang YR et al. “Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(10):7062-7078 (2024)

Allele A

OR 0.95

p 4.0e-13

N 349,990

Large GWAS

European

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ClinVar annotation

Benign

1 submitter

CLU-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes

Meta-analysisN=15,239Jun G. et al.(2010)· Archives of Neurology

This meta-analysis of 7,070 Alzheimer's disease cases and 8,169 cognitively normal elderly controls from 12 independent cohorts confirms that variants in CR1, CLU, and PICALM are AD risk loci in European ancestry populations (CLU rs11136000 OR=0.91, CR1 rs3818361 OR=1.14, PICALM rs3851179 OR=0.89). The study reveals a synergistic interaction between PICALM and APOE ε4, with PICALM association predominantly observed in APOE ε4-positive subjects.

Traits studied:Alzheimer's diseaseLate-onset Alzheimer's disease

PubMed DOI Metascience Observatory

About CLU

The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]