Genetic variant
rs2075252
rs2075252 is a single-letter difference in human DNA, on chromosome 2. 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 rs2075252 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 rs2075252, 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
- rs2075252
- Position
- chr2:169154475
Genome-wide association studies (15)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Serum urate levels | T | β 0.036 | 1E-44 | PubMed |
| Serum uric acid levels | C | β 0.026 | 2E-40 | PubMed |
| Urate levels (UKB data field 30880) | C | β 0.025 | 4E-39 | PubMed |
| Gout and other crystal arthrop (PheCode 274) | T | β 0.084 | 2E-29 | PubMed |
| Creatinine levels in bottom 99% of individuals by creatinine levels | — | OR 0.31 | 8E-29 | PubMed |
| Gout (PheCode 274.1) | T | β 0.084 | 2E-25 | PubMed |
| creatinine (mean, inv-norm transformed) | T | β 0.028 | 6E-23 | PubMed |
| Gout (PheCode 274.1) | T | β 0.083 | 1E-19 | PubMed |
| hematocrit (maximum, inv-norm transformed) | T | β 0.021 | 3E-12 | PubMed |
| Proteinuria | T | OR 1.08 | 1E-11 | PubMed |
| hemoglobin (maximum, inv-norm transformed) | T | β 0.02 | 1E-11 | PubMed |
| Proteinuria (mild) | T | OR 1.09 | 3E-10 | PubMed |
| Uric acid levels (1KG-JEWEL7K) | C | β 0.025 | 4E-9 | PubMed |
| Gout | T | OR 1.13 | 2E-8 | PubMed |
| Proteinuria (moderate to severe) | T | OR 1.07 | 4E-6 | PubMed |
Sources
- dbSNP: rs2075252 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies