Genetic variant
rs5442
rs5442 is a single-letter difference in human DNA, on chromosome 12. 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 rs5442 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Genetic Variants, Endothelial Function, and Risk of Preeclampsia Among American Indians
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 rs5442, 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
- rs5442
- Position
- chr12:6845700
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Refractive error | — | — | 3E-62 | PubMed |
| Spherical equivalent | G | OR 0.29 | 8E-40 | PubMed |
| Retinal thickness (pixel 88_54) | A | OR 0.58 | 3E-29 | PubMed |
| Macular thickness | — | OR 1.37 | 6E-26 | PubMed |
| Retinal vascular fractal density | A | OR 0.13 | 1E-21 | PubMed |
| Myopia | A | OR 0.19 | 6E-19 | PubMed |
| Retinal arteriolar width | G | OR 0.75 | 2E-17 | PubMed |
| Refractive error | A | β 0.097 | 4E-16 | PubMed |
| Spherical equivalent or myopia (age of diagnosis) | A | OR 7.82 | 5E-15 | PubMed |
| Myopia | — | OR 1.12 | 2E-14 | PubMed |
| Eye autorefraction and astigmatism (confirmatory factor analysis Factor 24) | — | — | 5E-14 | PubMed |
| Primary open angle glaucoma (MTAG) | A | OR 0.13 | 5E-14 | PubMed |
| Primary open angle glaucoma (multi-trait analysis) | A | OR 0.13 | 5E-14 | PubMed |
| Retinal nerve fibre layer thickness or ganglion cell inner plexiform layer thickness (MTAG) | A | OR 0.69 | 2E-13 | PubMed |
| Ganglion cell inner plexiform layer (GCIPL) thickness | A | OR 0.69 | 2E-13 | PubMed |
| Myopia (age of diagnosis) | A | β 0.098 | 9E-13 | PubMed |
| Hypermetropia (PheCode 367.8) | G | β 0.079 | 3E-12 | PubMed |
| Myopia (PheCode 367.1) | G | β 0.076 | 8E-12 | PubMed |
| Hypermetropia (PheCode 367.8) | G | β 0.085 | 2E-11 | PubMed |
| Open-angle glaucoma (PheCode 365.1) | G | β 0.076 | 4E-11 | PubMed |
Sources
- dbSNP: rs5442 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies