What you carry at this position in your DNA and what research says about it.
Cholesterol and Lipid Levels: 10/10 evidence, 39 publications.
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Sample genotype (not yours): G/G
Typical Cholesterol and Lipid Levels
This genotype is associated with typical levels of LDL cholesterol, apolipoprotein B, and triglycerides. You do not carry the variant linked to elevated blood lipids or increased gallstone risk.
What this genotype means: Typical LDL cholesterol levels; Typical triglyceride levels; Typical baseline risk of gallstones.
Sample genotype (not yours): A/A
Elevated Cholesterol and Lipid Levels
Carrying two copies of the A allele is associated with elevated LDL cholesterol, apolipoprotein B, and triglycerides. This profile also increases the risk of developing gallstones.
What this genotype means: Elevated LDL cholesterol; Elevated apolipoprotein B; Increased risk of gallstones.
Sample genotype (not yours): G/A
Slightly Elevated Cholesterol and Lipid Levels
Carrying one copy of the A allele is linked to slightly higher levels of LDL cholesterol and apolipoprotein B. This profile also slightly increases the risk of developing gallstones.
What this genotype means: Slightly higher LDL cholesterol; Slightly higher apolipoprotein B; Slightly increased risk of gallstones.
Gene function and biological role
Gene Function: The APOB gene provides instructions for making apolipoprotein B, a primary structural protein found in low-density lipoprotein (LDL) and very-low-density lipoprotein (VLDL) particles [1]. Apolipoprotein B acts as a scaffold that packages and transports cholesterol and triglycerides through the bloodstream [2]. It also serves as a crucial ligand that binds to LDL receptors on cells, allowing tissues to clear cholesterol from circulation [3]. Variations in this gene can alter how effectively these lipid particles are processed and cleared, directly influencing blood lipid profiles [4].
Variant Impact: The rs693 variant is a synonymous change located in exon 26 of the APOB gene, historically known as the XbaI polymorphism [5]. Although it does not change the encoded amino acid (threonine at position 2515), it is strongly associated with variations in circulating lipid levels [3]. Research suggests this synonymous change may influence the efficiency of APOB protein translation or mRNA stability, thereby affecting lipid particle assembly [5]. It is widely used in genetic studies as a key marker for inherited differences in cholesterol metabolism [1].
Key Insight: Even though this genetic change is synonymous and does not alter the final protein structure, it significantly influences how much LDL cholesterol circulates in your blood.
Location: APOB. Chromosome 2 · 2p24.1 · 21.0 Mb
Estimated prevalence by population
Global 40.0%; European 25.0%; African 59.5%; East Asian 89.4%; South Asian 56.7%; Americas 34.5%; Ashkenazi 41.5%; Finnish 37.7%; Middle Eastern 44.0%; Amish 21.7%.
Estimated GG genotype frequency.
Global 43.7%; European 50.0%; African 35.3%; East Asian 10.3%; South Asian 37.2%; Americas 48.5%; Ashkenazi 45.8%; Finnish 47.4%; Middle Eastern 44.7%; Amish 49.8%.
Estimated GA genotype frequency.
Global 16.2%; European 25.0%; African 5.2%; East Asian 0.3%; South Asian 6.1%; Americas 17.0%; Ashkenazi 12.6%; Finnish 14.9%; Middle Eastern 11.3%; Amish 28.5%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 17463246. Typical.
Apolipoprotein B. Evidence: 9/10. Source: PMID 35213538. Typical.
Triglycerides. Evidence: 10/10. Source: PMID 18193044. Typical.
Organ Systems
Digestive & Gut Disorders
Gallstones. Evidence: 4/10. Source: PMID 32647408. Typical Risk.
Showing effects for A/A genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 17463246. Elevated.
Apolipoprotein B. Evidence: 9/10. Source: PMID 35213538. Elevated.
Triglycerides. Evidence: 10/10. Source: PMID 18193044. Elevated.
Gallstones. Evidence: 4/10. Source: PMID 32647408. Increased Risk.
Showing effects for G/A genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 17463246. Slightly Elevated.
Apolipoprotein B. Evidence: 9/10. Source: PMID 35213538. Slightly Elevated.
Triglycerides. Evidence: 10/10. Source: PMID 18193044. Slightly Elevated.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Inheriting two copies of the G allele represents the most common genetic profile globally and serves as the baseline for lipid metabolism at this locus [1]. Circulating levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B typically remain within normal ranges for those with this profile [2]. Because the lipid-elevating A variant is absent, there is no genetically driven elevation in triglycerides or total cholesterol from this specific marker [3]. Baseline susceptibility to gallstone formation also remains at typical population levels [4]. Maintaining a heart-healthy diet and regular physical activity continues to be highly effective for supporting long-term cardiovascular wellness.
Typical LDL cholesterol levels; Typical triglyceride levels; Typical baseline risk of gallstones.
Sample genotype: AA (Homozygous)
Two copies of the A allele are strongly linked to elevated levels of low-density lipoprotein (LDL) cholesterol and total cholesterol [1]. This genotype results in a higher concentration of apolipoprotein B, which can lead to an increased number of circulating atherogenic lipid particles [2]. Research shows that this profile also tends to elevate triglycerides and lower levels of protective HDL cholesterol [3]. These combined metabolic changes are associated with a significantly higher risk of developing gallstones [4]. Although this variant is benign for severe, monogenic familial hypercholesterolemia, it represents a notable genetic contributor to common dyslipidemia [4].
Elevated LDL cholesterol; Elevated apolipoprotein B; Increased risk of gallstones.
Sample genotype: GA (Heterozygous)
Presence of a single A allele is associated with a modest increase in circulating LDL cholesterol and total cholesterol levels [1]. This genetic variant, historically known as the XbaI polymorphism, is linked to higher levels of apolipoprotein B, the structural backbone of cholesterol-carrying particles [2]. Because of this, carriers may experience slightly elevated triglycerides and a higher ApoB to ApoA1 ratio [3]. This altered lipid profile also correlates with a slightly increased susceptibility to gallstone formation [4]. While this variant is classified as benign for severe, rare genetic cholesterol disorders, it acts as a common modifier of everyday cardiovascular biomarkers [4].
Slightly higher LDL cholesterol; Slightly higher apolipoprotein B; Slightly increased risk of gallstones.
Variants with shared genetic architecture
rs1042034 · APOB Gene · Chr 2 · Cholesterol and Lipids
rs1367117 · APOB Gene · Chr 2 · Cholesterol Levels
rs4665710 · APOB Gene · Chr 2 · Blood Lipid Levels
A genetic map of human metabolism across the allele frequency spectrum.
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Genetic analyses of diverse populations improves discovery for complex traits.
Content updated August 2026.
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