Standard

Keratoconus (PheCode 364.41)

near ARHGEF37 · rs544696584

Where this position leads

Condition: Keratoconus

rs544696584 Condition: Keratoconus Keratoconus Condition rs544696584 rs544696584 near ARHGEF37

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 C allele shifted the measure 3.71 lower (95% confidence interval 3.69-3.72); p = 1 × 10−14.

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

Where it sits Chromosome 5, band 5q32 — between genes, 21.5 kb from ARHGEF37.

What each result means

C/C Two copies of the version the research linked to Keratoconus (PheCode 364.41). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Keratoconus (PheCode 364.41). That is a smaller link than two copies.
T/T No copy of the version the research linked to Keratoconus (PheCode 364.41). This is the starting point the study compared everyone against.
Source

Questions about rs544696584

What is rs544696584?

rs544696584 is a single position in the genome, in or near the near ARHGEF37 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 rs544696584 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 rs544696584 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 rs544696584 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) (rs544696584). MyGeneLog™. https://www.mygenelog.com/variants/rs544696584

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