rs73052335

This variant is located in the APOC1 gene.

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GWAS Catalog Trait Associations (3)

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

Alzheimer disease, family history of Alzheimer’s disease

Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)
Allele C
OR —
p 8.0e-21
N 404,467
Large GWAS
multi-ancestry

age of onset of Alzheimer disease

Blue EE et al. “Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer's disease at known and novel loci.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(9):e70489 (2025)
Allele C
OR —
β 0.062
p 1.0e-10
N 41,527
Meta-analysisLarge GWAS
multi-ancestry

About APOC1

This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]

View all APOC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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