APOE rs267606664: What Your Genotype Means
The rs267606664 variant is a rare genetic change located within the APOE gene. It has been historically investigated for its potential, though currently unclear, association with lipid metabolism traits such as hypertriglyceridemia.
What each genotype means
Typical APOE profile
This is the most common genotype for this position in the APOE gene. It represents the standard genetic sequence observed in the majority of the population.
This is the most common genotype found in the general population.
Rare ApoE-1 variant
This genotype corresponds to the rare ApoE-1 protein variant, also known as p.Gly145Asp or G145D. While historically identified in a patient with hypertriglyceridemia, the clinical significance of this specific change remains unclear and requires further research to determine its impact on health.
This is a rare genotype observed infrequently in the general population.
Understanding the Variant and Its Location
The variant rs267606664 is a specific change in the DNA sequence of the APOE gene, which is located on chromosome 19. In the context of human genetics, a single nucleotide polymorphism (SNP) like this represents a variation at a single position in the genome. This particular variant is situated in a region of the gene that has been subject to scientific scrutiny due to the critical role the APOE gene plays in human health. Because the human genome is vast, researchers use rsIDs (reference SNP identification numbers) to precisely track these specific locations. Identifying the exact position of rs267606664 allows scientists to compare data across different studies and populations to determine if the variant has any measurable impact on biological processes or physical traits.
The Role of the APOE Gene
The APOE gene provides instructions for making a protein called apolipoprotein E. This protein is a major component of lipoproteins, which are particles that carry fats, including cholesterol and triglycerides, through the bloodstream. By binding to specific receptors on the surface of cells, apolipoprotein E helps clear these fats from the blood, playing a vital role in lipid metabolism. The APOE gene is well-known for its common isoforms—e2, e3, and e4—which are widely studied for their influence on cardiovascular health and the risk of conditions like Alzheimer's disease. Because apolipoprotein E is so central to how the body processes lipids, researchers often investigate rare variants within this gene to see if they disrupt normal protein function or contribute to dyslipidemia, a condition characterized by abnormal levels of fats in the blood.
Research Associations and Evidence Strength
Scientific research into rs267606664 is currently limited. While the variant has been cataloged and historically investigated for potential associations with hypertriglyceridemia—a condition where triglyceride levels in the blood are elevated—the evidence remains inconclusive. In genetic research, an association does not necessarily mean causation; many rare variants are identified in studies but require extensive validation to determine if they truly influence a trait. Currently, the clinical significance of this variant is considered unclear. It is important to note that the genetic architecture of lipid disorders is complex, often involving multiple genes and environmental factors. Consequently, finding a rare variant in the APOE gene does not provide a definitive explanation for an individual's lipid profile, and more research is needed to clarify its role, if any, in human health.
Population Frequency and Interpretation
The rs267606664 variant is classified as rare, meaning it is found at a very low frequency in the general population. In genetics, rare variants are often defined as having an allele frequency of less than 1%. Because it is uncommon, there is less data available to draw broad conclusions about its distribution across different ancestral groups. When a variant is this rare, it is difficult for researchers to perform large-scale studies that provide the statistical power needed to confirm its effects. For the average person, encountering this variant in a genetic report should be viewed with caution. It is not a diagnostic marker, and its presence does not imply that an individual will develop a specific health condition. Genetic information is only one piece of a much larger puzzle that includes lifestyle, diet, and other genetic factors.
What You Can Do With This Information
If you have received information about your status for the rs267606664 variant, it is important to understand that this data is for educational purposes and should not be used for medical diagnosis. Because the clinical significance of this variant is currently unclear, it does not provide actionable medical guidance. If you are concerned about your lipid levels, such as cholesterol or triglycerides, the most effective approach is to consult with a healthcare professional. A doctor can order standard clinical blood tests to assess your actual lipid profile and discuss your overall cardiovascular risk based on established medical guidelines. Never make changes to your diet, exercise, or medication regimen based on a single genetic variant. Always discuss any health concerns or questions about your genetic results with your clinician or a qualified genetic counselor.
How common is this variant?
The rs267606664 variant is considered rare in the general population, with an allele frequency significantly below 1%.
Frequently asked questions
Is rs267606664 a cause of high cholesterol?
There is no definitive evidence that rs267606664 causes high cholesterol. While the APOE gene is involved in lipid metabolism, the clinical significance of this specific rare variant remains unclear.
Should I be worried if I have the rs267606664 variant?
No, the presence of this variant does not mean you will develop a health condition. Because its impact is not well-understood, it is not used for medical diagnosis or risk prediction.
How can I find out if this variant affects my health?
The best way to assess your health is through clinical blood tests ordered by your doctor. These tests measure your actual lipid levels, which are more informative than a single genetic variant.
Does this variant affect how I should take my medication?
There is no current clinical guidance linking this variant to medication response. Always discuss your medications and any genetic findings with your clinician or pharmacist.
Sources & further reading
Educational information only, last refreshed 9/19/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Variant in the APOE/TOMM40 locus associated with late-onset Alzheimer's disease risk.
Downstream variant in the APOE region associated with lipid metabolism profiles and healthspan indicators.
Variant (c.497G>A, p.Arg166Gln) in the APOE gene known as Apolipoprotein E4 Christchurch, which has been shown in clinical case studies to confer resistance to familial Alzheimer's disease pathology.
Defines the APOE ε2 allele, associated with lower LDL cholesterol and reduced risk of Alzheimer's disease.
Upstream regulatory variant influencing APOE transcription and plasma lipid modulation.
Regulatory variant in the APOE promoter region modulating transcriptional activity and risk for late-onset neurodegeneration.