rs1333049 9p21.3/CDKN2A/B
Significantly increased risk for coronary artery disease. 9p21.3 is the strongest known genetic risk factor for CAD.
What is rs1333049?
rs1333049 is a single-nucleotide polymorphism (SNP) in the 9p21.3/CDKN2A/B gene (9p21.3 locus near CDKN2A/CDKN2B). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as CC. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.
What does each rs1333049 genotype mean?
| Genotype | Association | What the evidence says | Confidence |
|---|---|---|---|
| CC | elevated | Significantly increased risk for coronary artery disease. 9p21.3 is the strongest known genetic risk factor for CAD. | 90% |
| CG / GC | slightly elevated | Moderately increased risk for coronary artery disease. | 87% |
| GG | typical / lower | Typical risk for coronary artery disease at this locus. | 90% |
How common is the C allele of rs1333049?
Minor-allele frequency by population (gnomAD / 1000 Genomes):
| European | 47.0% |
|---|---|
| East Asian | 52.0% |
| African | 35.0% |
| South Asian | 50.0% |
| Admixed American | 43.0% |
| Global | 46.0% |
Is rs1333049 on 23andMe and AncestryDNA chips?
Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.
Sources
Upload your 23andMe, AncestryDNA or WeGene raw file → · Ask G2: “What is my genotype at rs1333049 and what does it mean for me?”
Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.