Genetic variant
rs140522
rs140522 is a single-letter difference in human DNA, on chromosome 22. 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 rs140522 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 rs140522, 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
- rs140522
- Position
- chr22:50532837
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Mean corpuscular hemoglobin | C | — | 6E-336 | PubMed |
| mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed) | T | OR 0.11 | 2E-307 | PubMed |
| Mean corpuscular hemoglobin | C | β 0.075 | 6E-298 | PubMed |
| Mean corpuscular volume | C | β 0.079 | 2E-295 | PubMed |
| Mean corpuscular hemoglobin | — | — | 1E-251 | PubMed |
| Mean corpuscular haemoglobin (UKB data field 30050) | C | β 0.064 | 2E-247 | PubMed |
| Mean corpuscular volume | T | OR 0.37 | 1E-221 | PubMed |
| Mean corpuscular hemoglobin | C | β 0.068 | 6E-220 | PubMed |
| Red blood cell count | C | — | 5E-165 | PubMed |
| Red blood cell count | C | β 0.054 | 1E-151 | PubMed |
| Red blood cell count | T | β 0.034 | 8E-143 | PubMed |
| red blood cell count (RBC, maximum, inv-norm transformed) | T | β 0.068 | 4E-138 | PubMed |
| Mean corpuscular volume | C | β 0.091 | 2E-129 | PubMed |
| Red blood cell count | — | — | 5E-129 | PubMed |
| Red blood cell erythrocyte count (UKB data field 30010) | C | β 0.04 | 5E-121 | PubMed |
| red blood cell count (RBC, mean, inv-norm transformed) | T | β 0.059 | 1E-108 | PubMed |
| Red blood cell count | C | β 0.04 | 6E-104 | PubMed |
| Red blood cell count | C | β 0.052 | 7E-102 | PubMed |
| Mean corpuscular hemoglobin | C | β 0.077 | 3E-94 | PubMed |
| Mean spheric corpuscular volume | C | β 0.082 | 3E-93 | PubMed |
Sources
- dbSNP: rs140522 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies