SORT1 rs6467: Understanding Your Genetic Association
The rs6467 variant is a single-nucleotide polymorphism located within the SORT1 gene region. It is statistically associated with variations in LDL cholesterol levels and the risk of developing coronary artery disease.
What each genotype means
Baseline cholesterol association
This genotype is associated with the baseline expression levels of the SORT1 gene in the liver. Research indicates that variations at this locus influence how the body regulates LDL cholesterol and may impact the risk of coronary artery disease. Please discuss your overall cardiovascular health and cholesterol management with your clinician.
This is a common genotype found in many global populations.
Baseline cholesterol association
This genotype is associated with the baseline expression levels of the SORT1 gene in the liver. Research indicates that variations at this locus influence how the body regulates LDL cholesterol and may impact the risk of coronary artery disease. Please discuss your overall cardiovascular health and cholesterol management with your clinician.
This is a common genotype found in many global populations.
Baseline cholesterol association
This genotype is associated with the baseline expression levels of the SORT1 gene in the liver. Research indicates that variations at this locus influence how the body regulates LDL cholesterol and may impact the risk of coronary artery disease. Please discuss your overall cardiovascular health and cholesterol management with your clinician.
This is a common genotype found in many global populations.
What is rs6467 and Where is it Located?
The rs6467 variant is a specific genetic marker located on chromosome 1p13.3. This region is well-known in genomics as a significant locus for cardiovascular health. The variant sits within a complex genomic cluster that includes the SORT1 gene, which encodes the protein sortilin. In genetic research, rs6467 is often studied alongside other nearby variants because they are frequently inherited together as part of a haplotype block. This means that when researchers observe an association with rs6467, they are often looking at the collective influence of the entire 1p13.3 region on biological processes. Because this area contains multiple genes, including CELSR2 and PSRC1, scientists work to determine which specific genetic changes are driving the observed effects on cholesterol and heart health.
The Role of the SORT1 Gene
The SORT1 gene provides instructions for making a protein called sortilin. Sortilin acts as an intracellular sorting receptor, playing a critical role in how the liver processes and exports lipoproteins, such as ApoB100. Research indicates that sortilin is involved in the secretion of very low-density lipoproteins and can influence the levels of PCSK9, a protein that regulates the number of LDL receptors on the surface of liver cells. By modulating these pathways, the SORT1 gene influences the amount of LDL cholesterol circulating in the bloodstream. Because LDL cholesterol is a primary risk factor for the development of atherosclerosis and coronary artery disease, the function of the SORT1 gene is a major focus for understanding the biological mechanisms that link genetics to cardiovascular outcomes.
Research Associations and Evidence Strength
The association between the SORT1 locus and cardiovascular traits is supported by moderate to strong evidence from genome-wide association studies (GWAS). Large-scale studies have consistently identified this region as a key contributor to variations in LDL cholesterol levels. Furthermore, this locus has been linked to a range of vascular subphenotypes, including coronary artery calcification and the risk of myocardial infarction. While the statistical association is robust, it is important to note that these findings represent population-level trends rather than individual predictions. The effect size of any single variant like rs6467 is typically modest, and cardiovascular health is influenced by a complex interplay of many genetic factors, lifestyle choices, and environmental exposures. Current research continues to refine our understanding of how these specific variants contribute to the overall genetic architecture of heart disease.
What You Can Do With This Information
Genetic information regarding variants like rs6467 is intended for educational purposes and should not be used for self-diagnosis or medical decision-making. If you have concerns about your cholesterol levels or your family history of heart disease, the most effective step is to consult with a healthcare professional. A doctor can order clinical lipid panels and assess your overall cardiovascular risk profile using established medical guidelines. They can provide personalized advice on diet, exercise, and, if necessary, medication. Never change or stop any prescribed treatment based on genetic test results without first discussing it with your clinician or pharmacist. Understanding your genetic predispositions can be a helpful part of a broader conversation with your medical team, but it is only one piece of the puzzle in maintaining long-term heart health.
How common is this variant?
The rs6467 variant is considered a common SNP, with its alleles appearing at varying frequencies across diverse global populations.
Frequently asked questions
Does having this variant mean I will get heart disease?
No. Genetic variants like rs6467 are associated with statistical trends in populations, not individual outcomes. Many factors, including lifestyle and other genes, determine your actual risk.
Can I use this information to change my diet?
You should discuss any dietary changes with a doctor or registered dietitian. They can provide evidence-based recommendations tailored to your specific health needs and lipid profile.
Is this the same as familial hypercholesterolemia?
No. Familial hypercholesterolemia is typically caused by rare, high-impact mutations in specific genes like LDLR. The SORT1 locus is generally associated with common variations that have a smaller, incremental effect on cholesterol.
Where can I find more information on this gene?
You can explore resources like the NCBI Gene database or MedlinePlus Genetics for comprehensive, peer-reviewed information on the function and clinical significance of the SORT1 gene.
Sources & further reading
Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in SORT1
Functional regulatory variant altering SORT1 hepatic expression, predisposing to altered LDL cholesterol levels and myocardial infarction risk.
Variant in SORT1 significantly associated with LDL cholesterol levels and coronary artery disease risk.
A regulatory variant at the 1p13 locus near SORT1/CELSR2 that strongly influences LDL-C levels and coronary artery disease risk.
Functional regulatory variant at the 1p13 locus that alters hepatic SORT1 expression, modulating plasma LDL-C levels and coronary artery disease risk.
This variant influences LDL cholesterol levels and is a significant marker for cardiovascular health.