Exotropia, as genome-wide studies have reported it: 2 positions from 1 study, the largest recording 3,998 cases and 583,468 controls (European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Genome-wide studies have so far placed 2 positions on Exotropia, from 1 study; the GWAS Catalog files the condition as "Exotropia". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
He W et al. 2025, in Nature Communications — Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking. Sample in the catalogue's record: 3,998 cases and 583,468 controls (European ancestry). From it, 2 positions on this page: rs4908704 (near UTS2), rs3778977 (MAD1L1). PMID:40849414.
The 2 positions lie in or near 2 genes: UTS2, MAD1L1. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
The strongest association in the records is rs4908704 near UTS2, reported by He W et al. 2025 at P = 10-11.
Association records say which positions differ, on average, between people with Exotropia and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Nothing on this page diagnoses Exotropia. The 2 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Exotropia comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Exotropia. MyGeneLog™. https://www.mygenelog.com/conditions/exotropia
In the GWAS Catalog, Exotropia is filed as "Exotropia". Rather than define it, this page lists the genome-wide findings: 2 positions from 1 study, each with its study's sample and citation.
Genes play a part: 2 positions have been linked to it, the largest study recording 3,998 cases and 583,468 controls (European ancestry). But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
The positions lie in or near 2 genes: UTS2, MAD1L1. A mapped gene is the catalogue's location for a position, not a mechanism.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Exotropia from a genotype; a clinician diagnoses it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.