Genetic variant
rs1333042 a variant in the CDKN2B-AS1 gene
rs1333042 is a single-letter difference in the CDKN2B-AS1 gene, on chromosome 9. ClinVar, the public archive of variant interpretations, lists it as protective: linked to a lower chance of a condition. It has been reported in connection with Three Vessel Coronary Disease. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1333042 is the catalogue number of one of them, in the CDKN2B-AS1 gene. Which letters you carry there — one copy from each parent — is your genotype.
CDKN2B-AS1 (CDKN2B and CDKN2A antisense cis and trans regulatory RNA 1): This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster.
Gene description from NCBI Gene
rs1333042 increases susceptibility to Coronary artery disease 1.29 times for heterozygotes (AG) and ...
From SNPedia
Why might it matter?
ClinVar records this variant as protective, meaning linked to a lower chance of a condition. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs1333042, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs1333042
- Gene
- CDKN2B-AS1
- Position (GRCh38)
- chr9:22103813
- Variant type
- snv
- Consequence
- intron variant
- ClinVar classification
- protective
Genome-wide association studies (15)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Coronary artery / coronary heart disease (including heart attack, angina) | A | OR 0.18 | 8E-129 | PubMed |
| Takes medication for coronary artery/ coronary heart disease? | A | OR 0.17 | 9E-109 | PubMed |
| Ischemic heart disease (PheCode 411) | G | — | 2E-72 | PubMed |
| Medication use for hyperlipidemia (number of purchases) | — | β 0.017 | 3E-41 | PubMed |
| Parental longevity (father's age at death) | A | β 0.02 | 7E-15 | PubMed |
| Other chronic ischemic heart disease, unspecified (PheCode 411.8) | A | OR 0.16 | 9E-14 | PubMed |
| Total lipid levels in chylomicrons and extremely large VLDL | G | β 0.01 | 5E-12 | PubMed |
| Triglyceride levels in chylomicrons and extremely large VLDL | G | β 0.01 | 6E-12 | PubMed |
| Concentration of chylomicrons and extremely large VLDL particles | G | β 0.01 | 2E-10 | PubMed |
| Coronary heart disease | — | OR 1.3 | 1E-9 | PubMed |
| Endometriosis or asthma (pleiotropy) | A | β 0.06 | 1E-9 | PubMed |
| Asthma and cardiovascular disease | — | — | 3E-9 | PubMed |
| Parental longevity (both parents in top 10%) | A | β 0.011 | 2E-8 | PubMed |
| Parental longevity (mother's age at death or mother's attained age) | G | — | 3E-7 | PubMed |
| Coronary artery disease | — | β 0.07 | 6E-6 | PubMed |
How common the less frequent letter is
- 1kG AFR
- 3.4%
- 1kG ALL
- 32.1%
- 1kG AMR
- 50.3%
- 1kG EAS
- 30.5%
- 1kG EUR
- 50.2%
- 1kG SAS
- 41.2%
Sources
- dbSNP: rs1333042 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: CDKN2B-AS1
- Ensembl: CDKN2B-AS1
- GWAS Catalog — association studies