What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 6/10 evidence, 10 publications.
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Sample genotype (not yours): G/G
Typical Cholesterol and Heart Risk
Typical levels of LDL cholesterol and a standard baseline risk for heart disease. No protective genetic variants are present at this specific marker.
What this genotype means: Typical LDL cholesterol levels; Standard baseline risk of coronary artery disease.
Sample genotype (not yours): A/A
Significantly Lower Cholesterol and Heart Risk
Two copies of the protective variant, associated with highly favorable cholesterol levels and a lower risk of heart disease.
What this genotype means: Significantly lower LDL cholesterol levels; Strongly reduced risk of coronary artery disease.
Sample genotype (not yours): G/A
Lower Cholesterol and Reduced Heart Risk
One copy of the protective variant, linked to lower LDL cholesterol levels and a reduced risk of heart disease.
What this genotype means: Lower circulating LDL cholesterol; Reduced risk of coronary artery disease.
Gene function and biological role
Gene Function: The LDLR gene encodes the low-density lipoprotein receptor, which plays a critical role in regulating cholesterol levels in the blood. This receptor binds to LDL particles, commonly known as bad cholesterol, and clears them from circulation. Mutations that disrupt the function of this receptor are a well-known cause of familial hypercholesterolemia, a condition characterized by extremely high cholesterol and early-onset heart disease [1]. However, the gene's regulation is complex, and some variations can lead to unexpected protective effects on blood lipid levels [2].
Variant Impact: The variant rs72658867 is a splice region change located in intron 14 of the LDLR gene. It alters normal pre-mRNA splicing by causing the retention of intron 14 during transcription, which is predicted to produce a truncated receptor [3]. Despite this structural disruption, the variant does not cause familial hypercholesterolemia and is classified as benign by clinical experts [4]. Instead, carriers of this variant actually show significantly lower levels of LDL cholesterol and a reduced risk of coronary artery disease [5].
Key Insight: Although this variant disrupts the normal structure of the LDL receptor, it actually lowers blood cholesterol and protects against heart disease rather than causing harm.
Location: LDLR. Chromosome 19 · 19p13.2 · 11.1 Mb
Estimated prevalence by population
Global 98.5%; European 97.6%; African 99.5%; East Asian 100.0%; South Asian 99.6%; Americas 99.1%; Ashkenazi 94.1%; Finnish 99.8%; Middle Eastern 97.3%; Amish 100.0%.
Estimated GG genotype frequency.
Global 1.5%; European 2.4%; African 0.5%; East Asian 0.0%; South Asian 0.4%; Americas 0.9%; Ashkenazi 5.8%; Finnish 0.2%; Middle Eastern 2.7%; Amish 0.0%.
Estimated GA 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 < 0.1%; Amish 0.0%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 8/10. Source: PMID 33462484. Typical.
Apolipoprotein B. Evidence: 8/10. Source: PMID 33462484. Typical.
Heart Disease
Heart Disease. Evidence: 6/10. Source: PMID 36474045. Typical Risk.
Nutrition & Metabolism
Macronutrient Metabolism
Saturated Fatty Acids. Evidence: 6/10. Source: PMID 40545721. Typical.
Showing effects for A/A genotype
LDL Cholesterol. Evidence: 8/10. Source: PMID 33462484. Significantly Lowered.
Apolipoprotein B. Evidence: 8/10. Source: PMID 33462484. Significantly Lowered.
Heart Disease. Evidence: 6/10. Source: PMID 36474045. Reduced Risk.
Saturated Fatty Acids. Evidence: 6/10. Source: PMID 40545721. Significantly Lowered.
Showing effects for G/A genotype
LDL Cholesterol. Evidence: 8/10. Source: PMID 33462484. Lowered.
Apolipoprotein B. Evidence: 8/10. Source: PMID 33462484. Lowered.
Saturated Fatty Acids. Evidence: 6/10. Source: PMID 40545721. Lowered.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having the G/G genotype means carrying two copies of the common, standard allele. This genotype is associated with typical levels of low-density lipoprotein (LDL) cholesterol and total cholesterol in the bloodstream [1]. Because there is no protective splice variant at this position, there is no genetically driven reduction in cardiovascular risk from this marker [2]. Standard lifestyle factors, such as diet and exercise, remain the primary drivers of lipid levels and overall heart health.
Typical LDL cholesterol levels; Standard baseline risk of coronary artery disease.
Sample genotype: AA (Homozygous)
Carrying two copies of the rare A allele is extremely uncommon and is associated with the lowest levels of LDL cholesterol and apolipoprotein B [1]. This genotype maximizes the protective effect against coronary artery disease by significantly reducing the accumulation of pro-atherogenic lipoproteins in the blood [2]. The splicing alteration in both copies of the gene leads to a highly favorable cardiovascular profile without causing clinical lipid deficiencies [3]. While extremely rare, this genotype provides a strong genetic shield against high cholesterol and related arterial plaque buildup. The genetic baseline is highly protective.
Significantly lower LDL cholesterol levels; Strongly reduced risk of coronary artery disease.
Sample genotype: GA (Heterozygous)
Carrying one copy of the A allele is associated with a significant reduction in circulating LDL cholesterol and total cholesterol levels [1]. This genetic change alters the splicing of the LDLR gene, which unexpectedly helps lower non-HDL cholesterol [2]. Consequently, individuals with this genotype enjoy a lower risk of developing coronary artery disease, with studies showing a protective effect against heart issues [3]. This natural genetic advantage provides a favorable lipid profile. It represents a rare instance where a gene-disrupting variant offers a health benefit rather than a risk.
Lower circulating LDL cholesterol; Reduced risk of coronary artery disease.
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
Genetics of 35 blood and urine biomarkers in the UK Biobank.
A scalable variational inference approach for increased mixed-model association power.
Content updated August 2026.
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