What you carry at this position in your DNA and what research says about it.
Cholesterol Levels: 10/10 evidence, 34 publications.
You're viewing every possible genotype for this variant.
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Sample genotype (not yours): G/G
Favorable Cholesterol Profile
This genotype is associated with lower LDL and total cholesterol levels, alongside higher HDL levels. It represents the typical genetic baseline for lipid clearance.
What this genotype means: More efficient LDL clearance; Favorable lipid baseline.
Sample genotype (not yours): A/A
Elevated Cholesterol Risk
Carrying two copies of the A allele is linked to higher LDL and total cholesterol levels, as well as lower HDL levels. This profile can contribute to overall cardiovascular risk.
What this genotype means: Higher LDL and total cholesterol; Lower HDL cholesterol.
Sample genotype (not yours): G/A
Slightly Elevated Cholesterol Risk
Carrying one copy of the A allele is associated with a modest increase in LDL and total cholesterol levels. It may also lead to slightly lower HDL levels.
What this genotype means: Modestly higher LDL cholesterol; Slightly lower HDL cholesterol.
Gene function and biological role
Gene Function: The APOB gene encodes apolipoprotein B, which is the primary protein component of low-density lipoprotein (LDL) and very-low-density lipoprotein (VLDL) particles [1]. This protein serves as a crucial ligand for LDL receptors on cell surfaces, allowing tissues to bind and internalize cholesterol from the bloodstream [1]. Proper functioning of apolipoprotein B is essential for maintaining lipid homeostasis and preventing the accumulation of arterial plaque [2]. Genetic variations that alter the structure or expression of this protein can directly impact how efficiently cholesterol is cleared from circulation [2].
Variant Impact: The rs1367117 variant is a missense mutation in exon 4 of the APOB gene that causes a threonine-to-isoleucine amino acid substitution at position 98 of the protein (p.Thr98Ile). This structural change alters the apolipoprotein B-100 protein, which is essential for lipid transport and receptor binding. The alteration influences the rate at which cholesterol-carrying particles are cleared from the blood [1]. Large-scale genomic studies have consistently linked this specific change to variations in circulating LDL and total cholesterol levels [2].
Key Insight: This variant alters the actual structure of apolipoprotein B, directly influencing how efficiently your body clears LDL cholesterol from your bloodstream.
Location: APOB. Chromosome 2 · 2p24.1 · 21.0 Mb
Estimated prevalence by population
Global 58.3%; European 46.5%; African 77.9%; East Asian 77.5%; South Asian 72.1%; Americas 49.0%; Ashkenazi 66.7%; Finnish 52.7%; Middle Eastern 70.0%; Amish 45.2%.
Estimated GG genotype frequency.
Global 35.0%; European 43.4%; African 20.7%; East Asian 21.1%; South Asian 25.6%; Americas 42.0%; Ashkenazi 30.0%; Finnish 39.8%; Middle Eastern 27.3%; Amish 44.1%.
Estimated GA genotype frequency.
Global 6.7%; European 10.1%; African 1.4%; East Asian 1.4%; South Asian 2.3%; Americas 9.0%; Ashkenazi 3.4%; Finnish 7.5%; Middle Eastern 2.7%; Amish 10.8%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Typical Levels.
Total Cholesterol. Evidence: 10/10. Source: PMID 20686565. Typical Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Higher Levels.
Triglycerides. Evidence: 10/10. Source: PMID 29507422. Typical Levels.
Showing effects for A/A genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565.
Total Cholesterol. Evidence: 10/10. Source: PMID 20686565.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Lower Levels.
Triglycerides. Evidence: 10/10. Source: PMID 29507422. Elevated Levels.
Showing effects for G/A genotype
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Slightly Lower.
Triglycerides. Evidence: 10/10. Source: PMID 29507422. Slightly Elevated.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having two copies of the G allele is linked to more efficient clearance of low-density lipoproteins from the bloodstream [1]. Large-scale genome-wide association studies show that individuals with this genotype tend to have lower total cholesterol and lower LDL cholesterol compared to carriers of the A allele [2]. Additionally, this genotype is associated with higher levels of high-density lipoprotein (HDL) cholesterol, which is often considered protective for cardiovascular health [3]. While other lifestyle factors like diet and exercise play a major role, this genetic profile provides a favorable baseline for lipid metabolism [1]. ClinVar assessments confirm that this common variant is entirely benign and does not cause familial lipid disorders [4].
More efficient LDL clearance; Favorable lipid baseline.
Sample genotype: AA (Homozygous)
Individuals with this genotype carry two copies of the A allele, which is associated with the highest average LDL and total cholesterol levels for this variant [1]. This genetic profile is also linked to higher circulating triglycerides and lower levels of protective HDL cholesterol [3]. Although these genetic effects are modest on their own, they can compound with other risk factors to influence long-term cardiovascular health [1]. ClinVar databases classify this variant as benign, meaning it does not cause severe, high-risk genetic conditions like familial hypercholesterolemia [4].
Higher LDL and total cholesterol; Lower HDL cholesterol.
Sample genotype: GA (Heterozygous)
This heterozygous genotype is associated with a mild increase in circulating low-density lipoprotein (LDL) and total cholesterol [1]. This change is also linked to slightly higher triglyceride levels and a minor reduction in HDL cholesterol [3]. While this genetic nudge is relatively small, it contributes to your overall cardiovascular risk profile alongside diet, exercise, and other genetic factors [1]. ClinVar evaluations confirm that this variant is benign and does not cause severe inherited lipid disorders like familial hypercholesterolemia [4].
Modestly higher LDL cholesterol; Slightly lower HDL cholesterol.
Variants with shared genetic architecture
rs1042034 · APOB Gene · Chr 2 · Cholesterol and Lipids
rs4665710 · APOB Gene · Chr 2 · Blood Lipid Levels
rs515135 · APOB Gene · Chr 2 · LDL Cholesterol Levels
Biological, clinical and population relevance of 95 loci for blood lipids.
Discovery and refinement of loci associated with lipid levels.
A large electronic-health-record-based genome-wide study of serum lipids.
Genetic analyses of diverse populations improves discovery for complex traits.
Content updated August 2026.
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