LDLR rs6518063: Understanding This Cholesterol-Related Variant
The rs6518063 variant is a single nucleotide polymorphism located within the LDLR gene. It has been identified in scientific studies as having a statistical association with variations in low-density lipoprotein (LDL) cholesterol levels in the blood.
What each genotype means
Typical LDL cholesterol association
This genotype represents the most common form of this variant observed in many populations. Research indicates this variant is associated with variations in LDL cholesterol levels, though the specific impact of this genotype is considered limited and may vary based on individual lifestyle and other genetic factors. Please consult with your healthcare provider to discuss your cholesterol levels and overall cardiovascular health.
This is a common genotype found globally, though exact frequencies vary significantly by ancestral background.
Typical LDL cholesterol association
This genotype represents a heterozygous state for this variant. Studies suggest an association with LDL cholesterol levels, but the clinical significance remains limited and is not diagnostic of any specific condition. You should discuss your lipid profile and cardiovascular risk factors with your physician to determine if any clinical follow-up is appropriate.
This genotype is observed at varying frequencies across global populations as a common genetic variation.
Typical LDL cholesterol association
This genotype represents the alternative homozygous state for this variant. While associated with LDL cholesterol levels in population-based studies, the evidence for a direct clinical impact is limited. It is recommended that you review your cholesterol screening results with a healthcare professional to understand your personal health context.
This genotype is a common variation found in many populations, with prevalence rates differing by ancestry.
What is rs6518063 and Where is it Located?
The rs6518063 variant is a specific change in the DNA sequence located within the LDLR gene, which stands for the low-density lipoprotein receptor gene. In genomics, a single nucleotide polymorphism (SNP) like rs6518063 represents a position in the genome where one of the four chemical bases—adenine, thymine, cytosine, or guanine—differs between individuals. This particular variant is situated in a region of the gene that researchers study to understand how genetic differences might influence the body's ability to process cholesterol. Because the LDLR gene is critical for cholesterol metabolism, variations within or near this gene are frequently investigated in large-scale genetic studies. It is important to note that being a carrier of a specific genotype at this location does not mean an individual will necessarily have high or low cholesterol, as many environmental and lifestyle factors also play a significant role in determining these levels.
The Role of the LDLR Gene
The LDLR gene provides instructions for making a protein called the low-density lipoprotein receptor. This receptor is found on the surface of cells, particularly in the liver, and its primary job is to bind to LDL cholesterol particles circulating in the bloodstream. Once bound, the receptor helps pull these particles into the cell, where they are broken down and removed from the blood. This process is essential for maintaining healthy cholesterol levels. When the LDLR gene functions optimally, the body can effectively regulate the amount of cholesterol in the blood. However, mutations or variations in this gene can sometimes alter the efficiency of these receptors. While some rare mutations in LDLR are known to cause familial hypercholesterolemia, common variants like rs6518063 are generally studied for their smaller, incremental effects on cholesterol levels across the general population rather than as direct causes of disease.
Research Associations and Evidence Strength
The association between rs6518063 and LDL cholesterol levels has been documented in various genome-wide association studies (GWAS). These studies look for correlations between specific genetic markers and physical traits across large groups of people. The evidence for rs6518063 is currently considered limited in terms of its clinical utility for individual health prediction. While statistical signals have been observed, the effect size of this specific variant on an individual's total cholesterol profile is typically small. Furthermore, genetic associations can vary significantly depending on the ancestry of the population being studied. Because cholesterol levels are complex traits influenced by hundreds of genetic variants, diet, exercise, and age, it is difficult to isolate the impact of a single SNP like rs6518063. Researchers continue to investigate these markers to better understand the genetic architecture of lipid metabolism, but this information is not currently used for routine clinical diagnosis.
Interpreting Your Genetic Information
If you have received information about your rs6518063 genotype, it is important to view it within the context of your overall health. Genetic data is only one piece of a much larger puzzle that includes your medical history, lifestyle, and other environmental factors. You cannot use this information to diagnose yourself with a condition or to predict your future cholesterol levels with certainty. If you are concerned about your cholesterol or cardiovascular health, the most effective approach is to consult with a healthcare professional. They can order standard blood panels to measure your actual lipid levels and provide guidance based on clinical guidelines. Never make changes to your diet, exercise routine, or medication regimen based solely on genetic test results without first discussing them with your doctor or a qualified medical professional who can interpret these findings in the context of your complete health profile.
How common is this variant?
The rs6518063 variant is considered a common polymorphism, with its genotypes appearing at varying frequencies across different global ancestral populations.
Frequently asked questions
Does having the rs6518063 variant mean I have high cholesterol?
No, having this variant does not mean you have high cholesterol. Cholesterol levels are influenced by a combination of many genetic factors, diet, physical activity, and other lifestyle choices.
Can I use this SNP to predict my risk of heart disease?
Current research does not support using this single SNP to predict heart disease risk. Cardiovascular health is complex, and clinical risk assessment relies on established markers like blood lipid panels and family history.
Should I change my diet based on my rs6518063 genotype?
You should not change your diet based on this genetic result. Always consult with a doctor or a registered dietitian before making significant changes to your nutrition or health habits.
Where can I find more information about the LDLR gene?
You can find reliable information about the LDLR gene and its role in cholesterol metabolism through resources like MedlinePlus Genetics or the National Institutes of Health (NIH) websites.
Sources & further reading
Educational information only, last refreshed 9/23/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in LDLR
Familial hypercholesterolemia pathogenic missense variant in the LDL receptor gene causing severe premature cardiovascular risk.
Pathogenic missense mutation in LDLR leading to familial hypercholesterolemia, severely elevated LDL cholesterol, and high risk of early-onset coronary artery disease.
Pathogenic missense/in-frame mutation in LDLR associated with autosomal dominant familial hypercholesterolemia and impaired LDL clearance.
Pathogenic LDLR missense variant causing functional impairment of the low-density lipoprotein receptor and familial hypercholesterolemia.
Low-density lipoprotein receptor missense change p.Asp227Glu impairing LDL clearance and causing autosomal dominant familial hypercholesterolemia.
Functional 5' promoter variant in the low-density lipoprotein receptor gene affecting LDLR transcription and elevated plasma cholesterol levels.