rs679515

This variant is located in the CR1 gene.

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GWAS Catalog Trait Associations (4)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.59
p 1.0e-270
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele T
OR 0.66
p 2.0e-81
N 2,721
Large GWAS
European

Alzheimer disease

Bellenguez C et al. “New insights into the genetic etiology of Alzheimer's disease and related dementias.” Nature Genetics 54(4):412-436 (2022)
Allele T
OR 1.13
p 7.0e-46
N 487,511
Large GWAS
European
Lake J et al. “Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.” Molecular Psychiatry 28(7):3121-3132 (2023)
Allele T
OR —
p 4.0e-33
N 644,188
Meta-analysisLarge GWAS
multi-ancestry
Dalmasso MC et al. “The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(2):1298-1308 (2024)
Allele T
OR 1.13
p 9.0e-34
N 488,904
Large GWAS
multi-ancestry
Rajabli F et al. “Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.” Genome Biology 26(1):210 (2025)
Allele T
OR 1.14
p 6.0e-12
N 56,241
Meta-analysisLarge GWAS
multi-ancestry
Jun G et al. “A novel Alzheimer disease locus located near the gene encoding tau protein.” Molecular Psychiatry 21(1):108-17 (2016)
Allele T
OR 1.22
p 4.0e-9
N 19,559
Large GWAS
European

family history of Alzheimer’s disease

Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele T
OR 6.13
p 9.0e-10
N 376,113
Meta-analysisLarge GWAS
European

About CR1

This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]

View all CR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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