Genetic variant
rs17050272
rs17050272 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 rs17050272 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 rs17050272, 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
- rs17050272
- Position
- chr2:120548864
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Inhibin beta B chain levels | A | OR 0.3 | 4E-115 | PubMed |
| Serum levels of protein INHBB | A | OR 0.34 | 7E-81 | PubMed |
| Low density lipoprotein cholesterol levels | — | — | 2E-55 | PubMed |
| Estimated glomerular filtration rate (creatinine, cystatin c) | A | β 0.032 | 2E-53 | PubMed |
| Serum urate levels | A | β 0.034 | 3E-47 | PubMed |
| Total cholesterol levels | — | — | 5E-43 | PubMed |
| Low density lipoprotein cholesterol levels | A | β 0.023 | 2E-42 | PubMed |
| Non-HDL cholesterol levels | — | — | 2E-42 | PubMed |
| Creatinine levels | A | β 0.017 | 5E-42 | PubMed |
| Urate levels | A | β 0.026 | 5E-42 | PubMed |
| Estimated glomerular filtration rate (cystatin c) | A | β 0.027 | 5E-40 | PubMed |
| Estimated glomerular filtration rate (creatinine) | A | β 0.028 | 1E-38 | PubMed |
| Urate levels (UKB data field 30880) | A | β 0.021 | 4E-38 | PubMed |
| Serum uric acid levels | A | β 0.022 | 2E-34 | PubMed |
| Creatinine levels (UKB data field 30700) | A | β 0.019 | 1E-32 | PubMed |
| Total cholesterol levels | A | β 0.02 | 2E-32 | PubMed |
| Non-HDL cholesterol levels | A | β 0.024 | 2E-32 | PubMed |
| Serum urate levels | A | β 0.027 | 1E-31 | PubMed |
| Apolipoprotein B levels | G | β 0.024 | 5E-31 | PubMed |
| Serum urate levels | A | β 0.032 | 1E-30 | PubMed |
Sources
- dbSNP: rs17050272 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies