Genetic variant
rs4744712
rs4744712 is a single-letter difference in human DNA, on chromosome 9. 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 rs4744712 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 rs4744712, 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
- rs4744712
- Position
- chr9:68819791
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Creatinine levels | A | β 0.031 | 3E-109 | PubMed |
| Estimated glomerular filtration rate (creatinine) | C | OR 20.77 | 8E-96 | PubMed |
| Creatinine levels in bottom 99% of individuals by creatinine levels | — | OR 0.41 | 6E-62 | PubMed |
| Serum creatinine levels | C | β 0.025 | 4E-52 | PubMed |
| Estimated glomerular filtration rate (creatinine) | A | β 0.003 | 1E-29 | PubMed |
| Creatinine levels | A | β 0.026 | 3E-21 | PubMed |
| Phosphate levels (UKB data field 30810) | C | β 0.018 | 7E-20 | PubMed |
| Creatinine levels | — | — | 3E-18 | PubMed |
| Bicarbonate (mean, inv-norm transformed) | A | β 0.022 | 5E-17 | PubMed |
| Glomerular filtration rate (creatinine) | A | β 0.007 | 4E-15 | PubMed |
| Glomerular filtration rate in non diabetics (creatinine) | A | β 0.007 | 7E-15 | PubMed |
| Bicarbonate (maximum, inv-norm transformed) | A | β 0.019 | 5E-14 | PubMed |
| Chronic kidney disease | A | β 0.01 | 8E-14 | PubMed |
| Urate levels | A | β 0.013 | 5E-13 | PubMed |
| Fibroblast growth factor 23 levels | A | β 0.059 | 2E-12 | PubMed |
| Creatinine levels | A | β 0.024 | 1E-11 | PubMed |
| Bicarbonate (minimum, inv-norm transformed) | A | β 0.016 | 2E-11 | PubMed |
| Glomerular filtration rate | A | OR 0.75 | 3E-11 | PubMed |
| Estimated glomerular filtration rate | — | OR 0.87 | 1E-8 | PubMed |
| Serum urate levels | A | β 0.012 | 3E-8 | PubMed |
Sources
- dbSNP: rs4744712 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies