What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 8/10 evidence, 49 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): G/G
Typical Heart Disease Risk
This genotype is associated with standard LDL receptor activity and typical blood cholesterol levels. There is no genetically elevated or reduced risk for heart disease from this variant.
What this genotype means: Standard LDL receptor activity; Typical baseline cardiovascular risk.
Sample genotype (not yours): G/T
Lower Heart Disease Risk
Carrying one copy of the protective T allele is linked to moderately lower LDL cholesterol levels. This genetic profile offers a natural shield against coronary artery disease.
What this genotype means: Moderately lower LDL cholesterol; Reduced risk of coronary artery disease; Reduced risk of abdominal aortic aneurysm.
Sample genotype (not yours): T/T
Lowest Heart Disease Risk
Carrying two copies of the protective T allele is linked to significantly lower LDL cholesterol levels. This genotype provides the strongest natural protection against cardiovascular disease.
What this genotype means: Significantly lower LDL cholesterol; Lowest risk of coronary artery disease; Lowest risk of abdominal aortic aneurysm.
Gene function and biological role
Gene Function: The LDLR gene encodes the low-density lipoprotein receptor, a critical protein on cell surfaces that captures and clears LDL cholesterol from the bloodstream [1]. By binding to circulating LDL particles, these receptors facilitate their transport into cells, primarily in the liver, where they are broken down [2]. Proper functioning of this receptor pathway is essential for maintaining healthy blood lipid levels and preventing plaque buildup in the arteries [1]. Genetic variations that reduce the number or efficiency of these receptors can lead to significantly elevated cholesterol levels [2].
Variant Impact: This variant, rs6511720, is located within an intron of the LDLR gene and acts as a functional regulator of gene expression [3]. The minor T allele enhances the binding of specific transcription factors, which increases the production of LDL receptors [3]. With more receptors active on liver cells, the body can clear LDL cholesterol from circulation more efficiently [3]. This genetic boost leads to naturally lower blood cholesterol levels and a reduced risk of cardiovascular events [1].
Key Insight: Carrying the minor T allele naturally boosts the number of LDL receptors on liver cells, acting like a built-in filter to keep blood vessels clear.
Location: LDLR. Chromosome 19 · 19p13.2 · 11.1 Mb
Estimated prevalence by population
Global 78.6%; European 78.3%; African 74.8%; East Asian 98.5%; South Asian 86.1%; Americas 82.2%; Ashkenazi 75.2%; Finnish 78.3%; Middle Eastern 71.7%; Amish 76.2%.
Estimated GG genotype frequency.
Global 20.1%; European 20.3%; African 23.4%; East Asian 1.5%; South Asian 13.4%; Americas 16.9%; Ashkenazi 23.0%; Finnish 20.3%; Middle Eastern 25.9%; Amish 22.2%.
Estimated GT genotype frequency.
Global 1.4%; European 1.3%; African 1.8%; East Asian < 0.1%; South Asian 0.5%; Americas 0.9%; Ashkenazi 1.8%; Finnish 1.3%; Middle Eastern 2.3%; Amish 1.6%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Typical Levels.
Apolipoprotein B. Evidence: 9/10. Source: PMID 33462484. Typical Levels.
Heart Disease
Heart Disease. Evidence: 8/10. Source: PMID 28714975. Typical Risk.
Vascular Health & Aneurysm
Aortic Aneurysm. Evidence: 7/10. Source: PMID 24046328. Typical Risk.
Showing effects for G/T genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Moderately Lower.
Apolipoprotein B. Evidence: 9/10. Source: PMID 33462484. Moderately Lower.
Heart Disease. Evidence: 8/10. Source: PMID 28714975. Slightly Lower Risk.
Aortic Aneurysm. Evidence: 7/10. Source: PMID 24046328. Slightly Lower Risk.
Showing effects for T/T genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Lower Levels.
Apolipoprotein B. Evidence: 9/10. Source: PMID 33462484. Lower Levels.
Heart Disease. Evidence: 8/10. Source: PMID 28714975. Lower Risk.
Aortic Aneurysm. Evidence: 7/10. Source: PMID 24046328. Lower Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having two copies of the common G allele means the low-density lipoprotein receptors operate at baseline efficiency [1]. This genotype is the most common globally and represents the standard genetic baseline for lipid regulation [2]. While it does not offer the protective, cholesterol-lowering benefits of the T allele, it also does not cause familial hypercholesterolemia or genetically elevated cardiovascular risk on its own [2]. Standard lifestyle factors, such as diet, exercise, and regular cardiovascular screenings, remain the primary drivers of heart health for individuals with this profile [1].
Standard LDL receptor activity; Typical baseline cardiovascular risk.
Sample genotype: GT (Heterozygous)
Carrying one copy of the minor T allele is associated with a moderate increase in the expression of LDL receptors [1]. This enhanced receptor activity allows the liver to clear LDL cholesterol from the bloodstream more effectively, resulting in lower circulating lipid levels [2]. Large-scale genetic studies show that individuals with this genotype have a reduced lifetime risk of developing coronary artery disease [2]. Additionally, this protective effect extends to other vascular conditions, such as a lower risk of developing abdominal aortic aneurysms [3]. Maintaining a heart-healthy lifestyle can further complement this natural genetic advantage.
Moderately lower LDL cholesterol; Reduced risk of coronary artery disease; Reduced risk of abdominal aortic aneurysm.
Sample genotype: TT (Homozygous)
Having two copies of the protective T allele maximizes the expression of LDL receptors on cell surfaces [1]. This genetic configuration provides highly efficient clearance of LDL cholesterol from the bloodstream, leading to naturally low total and LDL cholesterol levels [2]. Consequently, individuals with this genotype enjoy the lowest risk of coronary artery disease and related cardiovascular complications associated with this variant [2]. Research also indicates a significantly reduced likelihood of developing abdominal aortic aneurysms [3]. While genetics provide a strong protective foundation, overall cardiovascular health is still optimized by healthy dietary and lifestyle choices.
Significantly lower LDL cholesterol; Lowest risk of coronary artery disease; Lowest risk of abdominal aortic aneurysm.
Variants with shared genetic architecture
rs139624145 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs112029328 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs121908024 · LDLR Gene · Chr 19 · Severe Cholesterol Risk
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
A variant in LDLR is associated with abdominal aortic aneurysm.
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com