Genetic variant
rs12193446
rs12193446 is a single-letter difference in human DNA, on chromosome 6. 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 rs12193446 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
risk of nearsightedness in people with European ancestry http://www.plosgenetics.org/article/info:do...
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 rs12193446, 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
- rs12193446
- Position
- chr6:129498893
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Spherical equivalent | G | OR 0.42 | 4E-107 | PubMed |
| Myopia | — | OR 1.3 | 5E-102 | PubMed |
| Myopia (age of diagnosis) | A | OR 0.25 | 4E-86 | PubMed |
| Refractive error (autorefraction measured) | A | OR 0.41 | 7E-85 | PubMed |
| Spherical equivalent or myopia (age of diagnosis) | A | OR 19.43 | 4E-84 | PubMed |
| Myopia | G | OR 0.33 | 6E-62 | PubMed |
| Age-related eyesight deterioration (confirmatory factor analysis Factor 27) | — | — | 1E-57 | PubMed |
| Myopia (PheCode 367.1) | A | OR 0.16 | 1E-43 | PubMed |
| Myopia (PheCode 367.1) | A | OR 0.15 | 1E-33 | PubMed |
| Ocular disease | — | — | 1E-33 | PubMed |
| Low myopia vs hyperopia | — | OR 0.41 | 2E-32 | PubMed |
| Hypermetropia (PheCode 367.8) | A | OR 0.11 | 3E-29 | PubMed |
| Age started wearing glasses (UKB data field 2217) | G | β 0.038 | 3E-27 | PubMed |
| Hypermetropia (PheCode 367.8) | A | OR 0.12 | 4E-25 | PubMed |
| High myopia | A | OR 1.72 | 7E-23 | PubMed |
| Spherical equivalent (joint analysis main effects and education interaction) | A | — | 1E-21 | PubMed |
| High myopia | — | OR 0.49 | 5E-20 | PubMed |
| Spherical equivalent | A | OR 0.21 | 6E-16 | PubMed |
| Hyperopia | — | OR 0.21 | 3E-14 | PubMed |
| Axial length | G | OR 0.17 | 5E-14 | PubMed |
Sources
- dbSNP: rs12193446 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies