Genetic variant
rs2284746
rs2284746 is a single-letter difference in human DNA, on chromosome 1. 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 rs2284746 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.
Why might it matter?
ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.
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 rs2284746, 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
- rs2284746
- Position
- chr1:16980180
Genome-wide association studies (18)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Height | — | — | 1E-131 | PubMed |
| FEV1/FVC ratio | — | — | 2E-75 | PubMed |
| FEV1 FVC ratio Z score (UKB data field 20258) | G | β 0.031 | 9E-59 | PubMed |
| Body size (confirmatory factor analysis Factor 21) | — | — | 4E-42 | PubMed |
| Height | C | β 0.04 | 1E-40 | PubMed |
| Forced vital capacity (FVC) | — | — | 9E-38 | PubMed |
| Height | C | β 0.04 | 4E-29 | PubMed |
| Height | C | β 0.06 | 2E-25 | PubMed |
| Pulmonary function | G | β 0.04 | 8E-16 | PubMed |
| Height | G | OR 1.17 | 5E-15 | PubMed |
| Body mass index | G | β 0.01 | 7E-14 | PubMed |
| Height | — | β 0.045 | 3E-13 | PubMed |
| Pulmonary function (smoking interaction) | — | — | 2E-11 | PubMed |
| Forced vital capacity (FVC) | G | β 0.018 | 4E-11 | PubMed |
| Lung function (FEV1/FVC) | G | β 0.042 | 1E-10 | PubMed |
| Height | C | β 0.033 | 2E-9 | PubMed |
| Diastolic blood pressure | C | β 0.092 | 3E-9 | PubMed |
| Diastolic blood pressure | C | β 0.077 | 5E-9 | PubMed |
Sources
- dbSNP: rs2284746 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies