Genetic variant
rs721917
rs721917 is a single-letter difference in human DNA, on chromosome 10. 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 rs721917 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Lemierre's syndrome and genetic polymorphisms: a case report. Associating multiple longitudinal trai...
From SNPedia
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 rs721917, 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
- rs721917
- Position
- chr10:79946568
Genome-wide association studies (17)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| ROBO2/SFTPD protein level ratio | — | OR 0.79 | 7E-3453 | PubMed |
| Pulmonary surfactant-associated protein D levels | G | OR 1.2 | 2E-716 | PubMed |
| Pulmonary surfactant-associated protein D levels | — | OR 0.72 | 1E-196 | PubMed |
| SFTPD protein level (protein group normalized intensity) | G | OR 0.75 | 2E-122 | PubMed |
| SFTPD protein levels | G | OR 0.58 | 5E-25 | PubMed |
| FEV1/FVC ratio | — | — | 8E-23 | PubMed |
| Lung function (FEV1/FVC) | A | OR 9.38 | 7E-21 | PubMed |
| Lung function (FEV1/FVC) | A | β 0.019 | 2E-15 | PubMed |
| Chronic obstructive pulmonary disease liability (machine learning-based score) | A | β 0.016 | 6E-14 | PubMed |
| COVID-19 (hospitalized covid vs population) | A | OR 0.94 | 2E-10 | PubMed |
| COVID-19 (critical illness vs population) | A | OR 0.93 | 8E-9 | PubMed |
| Chronic obstructive pulmonary disease | G | OR 1.08 | 2E-8 | PubMed |
| COVID-19 (hospitalized vs population) | G | OR 1.06 | 2E-8 | PubMed |
| Chronic obstructive pulmonary disease | G | OR 1.06 | 2E-8 | PubMed |
| Chronic obstructive pulmonary disease | G | OR 1.05 | 9E-8 | PubMed |
| COVID-19 (critical illness vs population) | G | OR 1.09 | 5E-7 | PubMed |
| SARS-CoV-2 infection | G | OR 1.02 | 9E-6 | PubMed |
Sources
- dbSNP: rs721917 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies