Genetic variant
rs217181
rs217181 is a single-letter difference in human DNA, on chromosome 16. 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 rs217181 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 rs217181, 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
- rs217181
- Position
- chr16:72080103
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Serum levels of protein HP | T | OR 0.82 | 5E-300 | PubMed |
| Apolipoprotein L1 levels | T | OR 0.34 | 2E-92 | PubMed |
| Haptoglobin levels | T | OR 0.96 | 1E-75 | PubMed |
| Ferritin levels (FTH1.FTL.3031.66.1) | T | OR 0.52 | 7E-69 | PubMed |
| C4BPB/ENTPD5 protein level ratio | — | OR 0.14 | 4E-59 | PubMed |
| Serum levels of protein SERPIND1 | T | OR 0.38 | 5E-58 | PubMed |
| MGLL/PLA2G4A protein level ratio | — | OR 0.13 | 2E-49 | PubMed |
| MGLL/PTPN6 protein level ratio | — | OR 0.13 | 3E-49 | PubMed |
| Serum levels of protein APOL1 | T | OR 0.33 | 1E-47 | PubMed |
| Metabolite levels | — | — | 1E-36 | PubMed |
| HPR protein levels | — | OR 0.52 | 5E-35 | PubMed |
| MGLL/MITD1 protein level ratio | — | OR 0.1 | 2E-32 | PubMed |
| DAG1/MGLL protein level ratio | — | OR 0.1 | 2E-32 | PubMed |
| ENO2/MGLL protein level ratio | — | β 0.098 | 2E-29 | PubMed |
| SERPIND1 protein levels | — | OR 0.46 | 7E-29 | PubMed |
| FIS1/MGLL protein level ratio | — | β 0.096 | 2E-28 | PubMed |
| MGLL/MPIG6B protein level ratio | — | β 0.093 | 5E-27 | PubMed |
| MGLL/STK4 protein level ratio | — | β 0.093 | 2E-26 | PubMed |
| Serum metabolite levels (CMS) | — | β 0.075 | 9E-26 | PubMed |
| Alanine transaminase (ALT, mean, inv-norm transformed) | C | β 0.033 | 2E-25 | PubMed |
Sources
- dbSNP: rs217181 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies