What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 10/10 evidence, 59 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
The G/G profile represents the typical genetic baseline for cardiovascular health. There is no elevated genetic risk for coronary artery disease or arterial calcification from this marker.
What this genotype means: Typical baseline risk for coronary artery disease; Normal levels of coronary artery calcification.
Sample genotype (not yours): C/C
Significantly Increased Heart Disease Risk
The C/C profile is linked to a significantly higher risk of coronary artery disease and arterial calcification. This genotype is associated with accelerated plaque buildup in the blood vessels.
What this genotype means: ~1.9x higher risk of coronary artery disease; Elevated levels of coronary artery calcification; Increased risk of ischemic stroke.
Sample genotype (not yours): G/C
Moderately Increased Heart Disease Risk
One copy of the C allele is linked to a moderately higher risk of developing coronary artery disease. This genetic variant can influence arterial plaque buildup and blood vessel inflammation.
What this genotype means: ~1.5x higher risk of coronary artery disease; Slightly increased risk of arterial calcification; Slightly higher susceptibility to stroke.
Gene function and biological role
Gene Function: The CDKN2B-AS1 gene, also known as ANRIL, encodes a long non-coding RNA that plays a critical role in epigenetic regulation [1]. This gene is located in the 9p21.3 chromosomal region, which is widely recognized as a major genetic hotspot for cardiovascular diseases [1]. ANRIL regulates the expression of neighboring genes involved in cell proliferation, aging, and inflammation [2]. By modulating these pathways, it directly influences the development of arterial plaques and vascular remodeling [2]. Altered expression of this non-coding RNA is strongly linked to cellular senescence in the vessel walls [3].
Variant Impact: Vascular health is influenced by rs1333049, an intergenic single nucleotide polymorphism located within the 9p21.3 risk locus [1]. This genetic change alters the transcription levels of the ANRIL long non-coding RNA, which in turn affects the expression of nearby tumor suppressor genes [1]. The altered expression levels promote smooth muscle cell proliferation and inflammation within arterial walls [2]. These vascular changes accelerate the progression of atherosclerosis and increase the susceptibility to arterial blockages [2]. It is one of the most heavily replicated genetic markers for cardiovascular outcomes in diverse global populations [4].
Key Insight: This variant is located in a gene desert on chromosome 9, meaning it does not code for a protein but instead acts as a powerful genetic master switch regulating vascular inflammation.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 35.2%; European 26.3%; African 57.9%; East Asian 24.4%; South Asian 23.5%; Americas 26.7%; Ashkenazi 17.9%; Finnish 34.1%; Middle Eastern 20.1%; Amish 21.7%.
Estimated GG genotype frequency.
Global 46.1%; European 50.0%; African 36.4%; East Asian 50.0%; South Asian 50.0%; Americas 49.9%; Ashkenazi 48.8%; Finnish 48.6%; Middle Eastern 49.5%; Amish 49.8%.
Estimated GC genotype frequency.
Global 18.7%; European 23.8%; African 5.7%; East Asian 25.6%; South Asian 26.6%; Americas 23.3%; Ashkenazi 33.3%; Finnish 17.3%; Middle Eastern 30.4%; Amish 28.5%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 10/10. Source: PMID 17634449. Typical Risk.
Stroke
Stroke. Evidence: 8/10. Source: PMID 24262325. Typical Risk.
Vascular Health & Aneurysm
Arterial Calcification. Evidence: 6/10. Source: PMID 22144573. Typical.
Atherosclerosis. Evidence: 8/10. Source: PMID 39024449. Typical.
Showing effects for C/C genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 17634449. ~1.9x Increased Risk.
Stroke. Evidence: 8/10. Source: PMID 24262325. Increased Risk.
Arterial Calcification. Evidence: 6/10. Source: PMID 22144573. Elevated.
Atherosclerosis. Evidence: 8/10. Source: PMID 39024449. Increased Risk.
Showing effects for G/C genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 17634449. ~1.5x Increased Risk.
Stroke. Evidence: 8/10. Source: PMID 24262325. Slightly Higher Risk.
Arterial Calcification. Evidence: 6/10. Source: PMID 22144573. Slightly Elevated.
Atherosclerosis. Evidence: 8/10. Source: PMID 39024449. Slightly Higher Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
The G/G profile represents the baseline genetic sequence at this specific locus on chromosome 9 [1]. Large-scale genome-wide association studies show that this genotype is not associated with the elevated rates of arterial plaque buildup seen in carriers of the C allele [1]. Studies confirm that individuals with this baseline profile have typical levels of coronary artery calcification [2]. This genotype is considered the normal or protective baseline across various ancestral groups [3]. Maintaining standard heart-healthy habits remains the primary way to manage overall cardiovascular wellness.
Typical baseline risk for coronary artery disease; Normal levels of coronary artery calcification.
Sample genotype: CC (Homozygous)
The C/C genotype is associated with an approximately 1.9-fold increase in the risk of developing coronary artery disease [1]. This genotype represents the highest genetic risk category at the well-studied 9p21.3 locus [1]. The genetic change leads to altered expression of the ANRIL non-coding RNA, promoting inflammation and plaque formation in the arteries [2]. Clinical studies have linked this profile to higher levels of coronary artery calcification and a greater risk of multi-vessel disease [3]. It is also associated with an increased likelihood of ischemic stroke [4]. Proactive cardiovascular screening and a heart-healthy lifestyle are particularly important for individuals with this genetic profile.
~1.9x higher risk of coronary artery disease; Elevated levels of coronary artery calcification; Increased risk of ischemic stroke.
Sample genotype: GC (Heterozygous)
Inheriting one copy of the C allele is associated with a roughly 1.5-fold increase in the risk of coronary artery disease [1]. This variant is located within a critical regulatory region that influences vascular inflammation and smooth muscle cell behavior [2]. Research indicates that carriers of this genotype tend to show higher rates of arterial plaque progression over time [3]. The presence of this allele is also linked to a slightly elevated risk of ischemic stroke [4]. While genetics plays a role, lifestyle factors such as diet and exercise are highly effective at mitigating this inherited risk.
~1.5x higher risk of coronary artery disease; Slightly increased risk of arterial calcification; Slightly higher susceptibility to stroke.
Variants with shared genetic architecture
rs2891168 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs4977574 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs1011970 · CDKN2B-AS1 Gene · Chr 9 · Breast Cancer Risk
Genetic Variation in 9p21 and the Plasma Proteome.
Genomewide association analysis of coronary artery disease.
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