Genetic variant
rs11722554
rs11722554 is a single-letter difference in human DNA, on chromosome 4. 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 rs11722554 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Rare and low-frequency coding variants alter human adult height.
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 rs11722554, 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
- rs11722554
- Position
- chr4:5015156
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Serum levels of protein CYTL1 | A | OR 0.73 | 2E-36 | PubMed |
| Peak expiratory flow | A | OR 12.05 | 2E-33 | PubMed |
| Cytokine-like protein 1 levels | A | OR 0.41 | 5E-29 | PubMed |
| Height | — | — | 2E-28 | PubMed |
| Height | — | β 0.05 | 1E-27 | PubMed |
| Standing height (UKB data field 50) | A | β 0.03 | 4E-27 | PubMed |
| Height (baseline) | G | β 0.036 | 2E-26 | PubMed |
| Peak expiratory flow (UKB data field 3064) | A | β 0.044 | 7E-23 | PubMed |
| Waist circumference adjusted for body mass index | — | — | 4E-18 | PubMed |
| Height | A | β 0.037 | 3E-17 | PubMed |
| Waist circumference adjusted for body mass index | A | β 0.058 | 9E-15 | PubMed |
| Waist-to-hip ratio adjusted for BMI | A | β 0.033 | 1E-11 | PubMed |
| Waist-to-hip ratio adjusted for BMI | — | — | 4E-11 | PubMed |
| Waist-hip index | A | β 0.049 | 8E-11 | PubMed |
| A body shape index | A | β 0.048 | 3E-10 | PubMed |
| Iliac isthmus breadth | — | — | 1E-9 | PubMed |
| Waist-to-hip ratio adjusted for BMI | A | β 0.045 | 2E-9 | PubMed |
| Pelvic width | — | — | 9E-9 | PubMed |
| Childhood body mass index | G | β 0.03 | 3E-8 | PubMed |
Sources
- dbSNP: rs11722554 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies