Standard

Exotropia

MAD1L1 · rs3778977

Where this position leads

What the study found

Who was studied 3,998 European ancestry cases, 583,468 European ancestry controls.

The effect Each copy of the T allele shifted the measure 0.088 lower (95% confidence interval 0.063-0.113); p = 4 × 10⁻¹¹.

How common The T allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 7, band 7p22.3 — in an intron of MAD1L1.

What each result means

C/C No copy of the version the research linked to Exotropia. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Exotropia. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Exotropia. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking

He W, van der Most PJ, Ong JS, Hwang LD, Wu Y, Magnø MS, Vehof J, Krebs K, Mauring L, Õunap K, Abner E, Martin NG

and 12 more — show all

Plotnikov D, Jiang C, Melles RB, Gharahkhani P, Snieder H, Palumaa T, Kaljurand K, Guggenheim JA, Mackey DA, Engle EC, Choquet H, MacGregor S

Lifelines Cohort Study

Nature communications · 2025 · PMID 40849414 · open access

Questions about rs3778977

What is rs3778977?

rs3778977 is a single position in the genome, in or near the MAD1L1 gene. Published research associates it with exotropia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3778977 linked to?

On MyGeneLog this position is linked to Exotropia. The research behind each link, and its sources, are set out on that condition page.

Does having rs3778977 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs3778977 come from?

GWAS Catalog, Nature communications 2025, PMID:40849414. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Exotropia (rs3778977). MyGeneLog™. https://www.mygenelog.com/variants/rs3778977

← See all variants