Standard

Keratoconus (PheCode 364.41)

near DDX43P2 · rs192984922

Where this position leads

Condition: Keratoconus

rs192984922 Condition: Keratoconus Keratoconus Condition rs192984922 rs192984922 near DDX43P2

What the study found

Who was studied 367 African American or Afro-Caribbean cases, 121,509 African American or Afro-Caribbean controls, 573 European ancestry cases, 450,622 European ancestry controls.

The effect Each copy of the G allele shifted the measure 2.97 lower (95% confidence interval 2.94-3); p = 1 × 10−12.

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

Where it sits Chromosome 7, band 7p12.2 — between genes, 194 kb from DDX43P2.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Keratoconus (PheCode 364.41) — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Keratoconus (PheCode 364.41).
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Keratoconus (PheCode 364.41) compared to the general population.
Source

Questions about rs192984922

What is rs192984922?

rs192984922 is a single position in the genome, in or near the near DDX43P2 gene. Published research associates it with keratoconus (phecode 364.41). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs192984922 linked to?

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

Does having rs192984922 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 rs192984922 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

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.

Keratoconus (PheCode 364.41) (rs192984922). MyGeneLog™. https://www.mygenelog.com/variants/rs192984922

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