What you carry at this position in your DNA and what research says about it.
Alzheimer's Risk: 10/10 evidence, 18 publications.
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Sample genotype (not yours): G/G
Higher Risk of Alzheimer's Disease
A double copy of the G allele is associated with a moderately increased risk of late-onset Alzheimer's disease. It also correlates with larger red blood cell volume and lower overall red blood cell counts.
What this genotype means: Moderately increased risk of late-onset Alzheimer's disease; Larger average red blood cell volume; Slightly lower overall red blood cell count.
Sample genotype (not yours): C/C
Typical Risk of Alzheimer's Disease
Two copies of the common C allele are associated with a typical, baseline risk of Alzheimer's disease. This genotype also correlates with standard red blood cell size and higher red blood cell counts.
What this genotype means: Typical baseline risk of late-onset Alzheimer's disease; Standard red blood cell size and volume; Higher baseline levels of protective sphingolipids.
Sample genotype (not yours): G/C
Increased Risk of Alzheimer's Disease
A single copy of the G allele is linked to a slightly increased risk of late-onset Alzheimer's disease. It also influences red blood cell size and lipid levels in the body.
What this genotype means: Slightly increased risk of late-onset Alzheimer's disease; Intermediate red blood cell volume and count; Moderately altered sphingolipid levels.
Gene function and biological role
Gene Function: The ABCA7 gene encodes a transmembrane transporter protein that belongs to the ATP-binding cassette family [1]. It plays a critical role in lipid homeostasis by regulating the transport of phospholipids and cholesterol across cell membranes [2]. In the brain, this transporter is highly expressed in microglia and neurons, where it assists in the clearance of amyloid-beta peptides [1]. Dysregulation or genetic variation in this gene can impair lipid transport and phagocytosis, contributing to neurodegenerative processes [3].
Variant Impact: The rs3752246 variant is a missense mutation in the ABCA7 gene that results in a glycine-to-alanine amino acid change at position 1527 of the protein. This structural modification is located in a region that may influence the post-translational modification and overall stability of the transporter. Research indicates that this change alters the transporter's activity, affecting both lipid metabolism and cellular clearance mechanisms [2]. The variant is also strongly associated with systemic levels of sphingolipids and variations in red blood cell indices [4].
Key Insight: This genetic variant connects brain lipid metabolism directly to red blood cell size and count.
Location: ABCA7. Chromosome 19 · 19p13.3 · 1.1 Mb
Estimated prevalence by population
Global 2.4%; European 3.0%; African 0.2%; East Asian 11.2%; South Asian 3.7%; Americas 1.8%; Ashkenazi 3.6%; Finnish 1.3%; Middle Eastern 1.9%; Amish 20.7%.
Estimated GG genotype frequency.
Global 22.6%; European 28.7%; African 8.2%; East Asian 44.5%; South Asian 31.2%; Americas 23.0%; Ashkenazi 30.6%; Finnish 20.4%; Middle Eastern 23.5%; Amish 49.6%.
Estimated GC genotype frequency.
Global 75.0%; European 68.3%; African 91.7%; East Asian 44.3%; South Asian 65.1%; Americas 75.3%; Ashkenazi 65.8%; Finnish 78.3%; Middle Eastern 74.6%; Amish 29.7%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Neurology & Mental Health
Neurodegenerative Diseases
Alzheimer's Disease. Evidence: 4/10. Source: PMID 21460841. ~1.15x Risk.
Cardiovascular & Metabolic
Blood Cell & Iron Traits
Red Blood Cell Size. Evidence: 10/10. Source: PMID 32888494. Larger Volume.
Red Blood Cell Count. Evidence: 10/10. Source: PMID 30595370. Slightly Lower.
Nutrition & Metabolism
Blood Chemistry & Metabolites
Sphingolipid Levels. Evidence: 6/10. Source: PMID 31628463. Lower Levels.
Showing effects for C/C genotype
Alzheimer's Disease. Evidence: 4/10. Source: PMID 21460841. Typical Risk.
Red Blood Cell Size. Evidence: 10/10. Source: PMID 32888494. Typical Volume.
Red Blood Cell Count. Evidence: 10/10. Source: PMID 30595370. Slightly Higher.
Sphingolipid Levels. Evidence: 6/10. Source: PMID 31628463. Higher Levels.
Showing effects for G/C genotype
Alzheimer's Disease. Evidence: 4/10. Source: PMID 21460841. Slightly Higher Risk.
Red Blood Cell Size. Evidence: 10/10. Source: PMID 32888494. Intermediate Volume.
Red Blood Cell Count. Evidence: 10/10. Source: PMID 30595370. Typical.
Sphingolipid Levels. Evidence: 6/10. Source: PMID 31628463. Intermediate Levels.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Inheriting two copies of the G allele is linked to a moderately elevated risk of developing late-onset Alzheimer's disease [1]. This genetic profile is associated with altered lipid transport and lower levels of protective sphingolipids in the brain and blood [2]. Studies suggest that the G allele may impair the clearance of amyloid-beta plaques, a hallmark of neurodegeneration [3]. Beyond neurological health, this genotype is associated with a higher mean corpuscular volume, indicating larger red blood cells [4]. Conversely, it correlates with a lower overall red blood cell count [5]. These hematological differences are generally subtle and typically remain within normal clinical ranges.
Moderately increased risk of late-onset Alzheimer's disease; Larger average red blood cell volume; Slightly lower overall red blood cell count.
Sample genotype: CC (Homozygous)
Possessing two copies of the common C allele is associated with a typical, baseline risk of late-onset Alzheimer's disease [1]. This genotype supports standard lipid transport and efficient cellular clearance of amyloid-beta in the brain [2]. Individuals with this profile tend to have higher levels of protective sphingolipids, such as lactosylceramides [3]. In terms of blood characteristics, this genotype is linked to a typical mean corpuscular volume, meaning red blood cells are of standard size [4]. It also correlates with a slightly higher overall red blood cell count [5]. These hematological markers reflect standard physiological baselines.
Typical baseline risk of late-onset Alzheimer's disease; Standard red blood cell size and volume; Higher baseline levels of protective sphingolipids.
Sample genotype: GC (Heterozygous)
Carrying one copy of the G allele is associated with a slightly higher risk of developing late-onset Alzheimer's disease compared to the common genotype [1]. This intermediate profile leads to moderate changes in lipid transport and cellular clearance processes [2]. Research shows that G allele carriers exhibit lower levels of certain protective sphingolipids [3]. On a systemic level, this genotype is linked to a slight increase in mean corpuscular volume, reflecting larger red blood cells [4]. It also correlates with a minor reduction in total red blood cell counts [5]. These subtle blood cell variations are typically benign and do not indicate clinical anemia.
Slightly increased risk of late-onset Alzheimer's disease; Intermediate red blood cell volume and count; Moderately altered sphingolipid levels.
Variants with shared genetic architecture
rs4147929 · ABCA7 Gene · Chr 19 · Alzheimer Disease Risk
rs3764650 · ABCA7 Gene · Chr 19 · Alzheimer's Disease Risk
rs11771145 · EPHA1-AS1 Gene · Chr 7 · Alzheimer's Disease Risk
Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease.
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.
Content updated August 2026.
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