Genetic variant
rs2279463
rs2279463 is a single-letter difference in human DNA, on chromosome 6. 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 rs2279463 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 rs2279463, 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
- rs2279463
- Position
- chr6:160247357
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Estimated glomerular filtration rate (creatinine) | G | β 0.063 | 2E-98 | PubMed |
| creatinine (mean, inv-norm transformed) | A | β 0.061 | 7E-70 | PubMed |
| creatinine (minimum, inv-norm transformed) | A | β 0.059 | 2E-62 | PubMed |
| estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed) | A | β 0.057 | 6E-56 | PubMed |
| creatinine (maximum, inv-norm transformed) | A | β 0.052 | 2E-54 | PubMed |
| Estimated glomerular filtration rate | A | β 0.008 | 2E-48 | PubMed |
| Estimated glomerular filtration rate based on creatinine and cystatin C in bottom 99% of individuals by creatinine levels | — | OR 4.17 | 3E-33 | PubMed |
| Estimated glomerular filtration rate | G | OR 11.76 | 6E-32 | PubMed |
| Estimated glomerular filtration rate (creatinine, cystatin c) | G | β 0.033 | 6E-29 | PubMed |
| Estimated glomerular filtration rate in non-diabetics | A | OR 0.8 | 2E-27 | PubMed |
| creatinine (mean, inv-norm transformed) | A | β 0.051 | 9E-26 | PubMed |
| creatinine (minimum, inv-norm transformed) | A | β 0.051 | 2E-23 | PubMed |
| Creatinine levels | A | β 0.05 | 3E-23 | PubMed |
| Creatinine levels (UKB data field 23478) | G | β 0.051 | 9E-19 | PubMed |
| estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed) | A | β 0.051 | 3E-18 | PubMed |
| Glomerular filtration rate in non diabetics (creatinine) | A | β 0.012 | 7E-18 | PubMed |
| creatinine (maximum, inv-norm transformed) | A | β 0.04 | 1E-17 | PubMed |
| Glomerular filtration rate (creatinine) | A | β 0.012 | 1E-15 | PubMed |
| Creatinine levels | G | β 0.071 | 1E-14 | PubMed |
| Chronic kidney disease | G | β 0.01 | 6E-12 | PubMed |
Sources
- dbSNP: rs2279463 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies