Genetic variant
rs1801253 a variant in the ADRB1 gene
rs1801253 is a single-letter difference in the ADRB1 gene, on chromosome 10. ClinVar, the public archive of variant interpretations, lists it as benign: not known to cause disease. It has been reported in connection with Pulmonary disease, chronic obstructive, susceptibility to and ADRB1-related disorder. 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 rs1801253 is the catalogue number of one of them, in the ADRB1 gene. Which letters you carry there — one copy from each parent — is your genotype.
ADRB1 (adrenoceptor beta 1): The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart.
Gene description from NCBI Gene
Also known as Arg389, variation at this SNP, located in the ADRB1 gene, may encode either the amino ...
From SNPedia
Why might it matter?
ClinVar records this variant as benign, meaning not known to cause disease. 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
- Pulmonary disease, chronic obstructive, susceptibility to
- ADRB1-related disorder
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 rs1801253, 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
- rs1801253
- Gene
- ADRB1
- Position
- chr10:114045297
- ClinVar classification
- Benign; association
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Triglycerides to Total Lipids in Medium HDL percentage | C | β 0.03 | 4E-32 | PubMed |
| Cholesterol to Total Lipids in Medium HDL percentage | C | β 0.02 | 1E-30 | PubMed |
| Triglycerides to Total Lipids in Small HDL percentage | C | β 0.02 | 7E-30 | PubMed |
| Cholesteryl Esters to Total Lipids in Medium HDL percentage | C | β 0.02 | 5E-29 | PubMed |
| Hypertension | C | β 0.059 | 6E-27 | PubMed |
| Triglycerides in small HDL | C | β 0.02 | 1E-24 | PubMed |
| Systolic blood pressure | — | β 0.022 | 3E-24 | PubMed |
| Cardiovascular disease | — | — | 6E-24 | PubMed |
| Phospholipids to Total Lipids in Medium HDL percentage | C | β 0.02 | 7E-23 | PubMed |
| Systolic blood pressure (cigarette smoking interaction) | — | — | 1E-22 | PubMed |
| Diastolic blood pressure (cigarette smoking interaction) | — | — | 3E-22 | PubMed |
| diastolic blood pressure (DBP, mean, inv-normal transformed) | G | β 0.028 | 3E-22 | PubMed |
| Triglyceride to phosphoglyceride ratio | C | β 0.02 | 3E-21 | PubMed |
| Triglycerides in very small VLDL | C | β 0.02 | 4E-20 | PubMed |
| Triglycerides in HDL | C | β 0.02 | 2E-19 | PubMed |
| Triglycerides in medium HDL | C | β 0.02 | 6E-19 | PubMed |
| Concentration of very large VLDL particles | C | β 0.02 | 2E-18 | PubMed |
| Phospholipids in large VLDL | C | β 0.02 | 4E-18 | PubMed |
| Triglycerides in IDL | C | β 0.02 | 6E-18 | PubMed |
| Total triglycerides levels | C | β 0.02 | 2E-17 | PubMed |
Sources
- dbSNP: rs1801253 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: ADRB1
- Ensembl: ADRB1
- GWAS Catalog — association studies