Standard

Anomalies of pupillary function (PheCode 379.4)

near TUSC1 · rs180958886

What the study found

Who was studied 395 African American or Afro-Caribbean cases, 120,831 African American or Afro-Caribbean controls, 1,884 European ancestry cases, 446,363 European ancestry controls, 235 Hispanic or Latin American cases, 59,339 Hispanic or Latin American controls.

The effect Each copy of the A allele shifted the measure 2.95 lower (95% confidence interval 2.92-2.98); p = 4 × 10−11.

How common The A allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 9, band 9p21.3 — between genes, 133.7 kb from TUSC1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Anomalies of pupillary function (PheCode 379.4) compared to the general population.
A/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Anomalies of pupillary function (PheCode 379.4).
T/T Published research associates this genotype with typical/baseline likelihood of Anomalies of pupillary function (PheCode 379.4) — no copies of the reported risk allele.
Source

Questions about rs180958886

What is rs180958886?

rs180958886 is a single position in the genome, in or near the near TUSC1 gene. Published research associates it with anomalies of pupillary function (phecode 379.4). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs180958886 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 rs180958886 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Anomalies of pupillary function (PheCode 379.4) (rs180958886). MyGeneLog™. https://www.mygenelog.com/variants/rs180958886

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