What you carry at this position in your DNA and what research says about it.
Cholesterol Levels: 10/10 evidence, 31 publications.
You're viewing every possible genotype for this variant.
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Sample genotype (not yours): A/A
Typical Cholesterol Levels and Standard Cardiovascular Risk
Typical cholesterol levels are expected with this common genetic profile. There is no genetic elevation of bad cholesterol from this specific marker.
What this genotype means: Typical LDL and total cholesterol levels; Standard baseline cardiovascular risk profile; Slightly higher susceptibility to elevated uric acid.
Sample genotype (not yours): A/G
Elevated Cholesterol Levels and Higher Cardiovascular Risk
Significantly higher levels of low-density lipoprotein and total cholesterol are associated with carrying one copy of this rare variant.
What this genotype means: Elevated LDL and total cholesterol levels; Increased long-term cardiovascular risk; Potential for enhanced cholesterol-lowering response to fish oil.
Sample genotype (not yours): G/G
Severely Elevated Cholesterol Levels and High Cardiovascular Risk
Extremely high levels of low-density lipoprotein and total cholesterol are linked to carrying two copies of this rare variant.
What this genotype means: Severely elevated LDL and total cholesterol levels; Significantly increased risk of early-onset cardiovascular disease; Strong potential for beneficial lipid response to fish oil supplementation.
Gene function and biological role
Gene Function: The ABCA6 gene encodes a member of the ATP-binding cassette transporter superfamily, which is primarily responsible for moving lipid molecules across cellular membranes [1]. It is highly expressed on the basolateral surface of hepatocytes in the liver, suggesting a critical role in hepatic lipid homeostasis and transport [2]. Although less famous than other cholesterol-regulating genes like LDLR, it is highly responsive to intracellular cholesterol levels [1]. Research indicates that genetic variations in this gene can significantly alter circulating lipid concentrations and overall cardiovascular risk profiles [3].
Variant Impact: A cysteine-to-arginine amino acid substitution at position 1359 of the ABCA6 protein severely compromises protein stability, leading to a loss of functional transporter molecules [1]. The resulting cellular transport deficiency is strongly associated with elevated blood lipid levels, particularly low-density lipoprotein and total cholesterol [3]. Interestingly, the impact of this genetic change is highly pronounced in specific European populations, such as the Dutch, where its frequency is significantly enriched [3]. Despite its strong association with hypercholesterolemia in humans, animal models have shown complex, species-specific differences in how this transporter affects systemic lipid metabolism [1].
Key Insight: The rare variant of this gene elevates cholesterol levels to a degree comparable to classic familial hypercholesterolemia mutations, but may be uniquely responsive to fish oil supplementation.
Location: ABCA6. Chromosome 17 · 17q24.2 · 69.1 Mb
Estimated prevalence by population
Global 98.0%; European 96.4%; African 99.3%; East Asian 100.0%; South Asian 99.9%; Americas 98.8%; Ashkenazi 99.9%; Finnish 99.3%; Middle Eastern 100.0%; Amish 100.0%.
Estimated AA genotype frequency.
Global 2.0%; European 3.6%; African 0.7%; East Asian 0.0%; South Asian 0.1%; Americas 1.2%; Ashkenazi 0.1%; Finnish 0.7%; Middle Eastern 0.0%; Amish 0.0%.
Estimated AG genotype frequency.
Global < 0.1%; European < 0.1%; African < 0.1%; East Asian 0.0%; South Asian < 0.1%; Americas < 0.1%; Ashkenazi < 0.1%; Finnish < 0.1%; Middle Eastern 0.0%; Amish 0.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 25961943. Typical.
Total Cholesterol. Evidence: 10/10. Source: PMID 25961943. Typical.
Gout & Uric Acid
Gout. Evidence: 8/10. Source: PMID 39406924. ~1.2x Higher Risk.
Blood Cell & Iron Traits
Hemoglobin Levels. Evidence: 10/10. Source: PMID 27863252. Typical.
Nutrition & Metabolism
Blood Chemistry & Metabolites
Blood Albumin Levels. Evidence: 10/10. Source: PMID 34321204. Typical (+0.52 g/L).
Showing effects for A/G genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 25961943. Elevated (+0.22 SD).
Total Cholesterol. Evidence: 10/10. Source: PMID 25961943. Elevated (+0.18 SD).
Gout. Evidence: 8/10. Source: PMID 39406924. Typical.
Hemoglobin Levels. Evidence: 10/10. Source: PMID 27863252. Slightly Higher.
Blood Albumin Levels. Evidence: 10/10. Source: PMID 34321204. Slightly Lower.
Showing effects for G/G genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 25961943. Highly Elevated.
Total Cholesterol. Evidence: 10/10. Source: PMID 25961943. Highly Elevated.
Gout. Evidence: 8/10. Source: PMID 39406924. Lower Risk.
Hemoglobin Levels. Evidence: 10/10. Source: PMID 27863252. Higher (+0.09 SD).
Blood Albumin Levels. Evidence: 10/10. Source: PMID 34321204. Lower.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Maintaining two copies of the common reference allele ensures normal functioning of the ABCA6 lipid transporter protein. Large-scale genetic studies show that this profile is associated with typical baseline levels of low-density lipoprotein and total cholesterol [1]. Because this genotype avoids the destabilizing protein mutation found in the rare variant, there is no genetically driven elevation in cardiovascular risk from this locus [2]. However, some evidence suggests a slightly higher susceptibility to elevated uric acid and gout compared to carriers of the rare variant, though this effect is relatively small [3].
Typical LDL and total cholesterol levels; Standard baseline cardiovascular risk profile; Slightly higher susceptibility to elevated uric acid.
Sample genotype: AG (Heterozygous)
A single copy of the rare arginine-encoding allele disrupts the structural stability of the ABCA6 transporter, leading to a partial loss of functional protein in liver cells [1]. This cellular deficiency impairs normal lipid clearance, resulting in a substantial increase in circulating low-density lipoprotein and total cholesterol levels [2]. Clinical data indicate that the lipid-elevating effect of this single copy is comparable in magnitude to mutations in well-known familial hypercholesterolemia genes [2]. Interestingly, some clinical trials suggest that the elevated cholesterol associated with this variant may be highly responsive to dietary interventions, particularly fish oil supplementation [3].
Elevated LDL and total cholesterol levels; Increased long-term cardiovascular risk; Potential for enhanced cholesterol-lowering response to fish oil.
Sample genotype: GG (Homozygous)
Possessing two copies of the rare arginine-encoding allele results in a near-complete lack of stable, functional ABCA6 transporter proteins. Severe cellular transport deficits lead to highly elevated circulating levels of both low-density lipoprotein and total cholesterol [1]. The genetic impact on blood lipids is exceptionally strong, placing individuals at a significantly higher risk for early-onset cardiovascular issues [2]. Fortunately, research into gene-environment interactions indicates that individuals carrying this variant may experience a more pronounced reduction in bad cholesterol when supplementing with fish oil [3].
Severely elevated LDL and total cholesterol levels; Significantly increased risk of early-onset cardiovascular disease; Strong potential for beneficial lipid response to fish oil supplementation.
Variants with shared genetic architecture
rs139624145 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs5742904 · APOB Gene · Chr 2 · Cholesterol and Heart Risk
rs6065906 · PLTP Gene · Chr 20 · Cardiovascular Health
The impact of low-frequency and rare variants on lipid levels.
Polygenic Hyperlipidemias and Coronary Artery Disease Risk.
A genome-wide association analysis reveals new pathogenic pathways in gout.
Content updated August 2026.
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