Standard

Keratoconus (PheCode 364.41)

near HSBP1 · rs181856846

Where this position leads

Condition: Keratoconus

rs181856846 Condition: Keratoconus Keratoconus Condition rs181856846 rs181856846 near HSBP1

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 4 lower (95% confidence interval 3.99-4.01); p = 4 × 10−12.

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

Where it sits Chromosome 16, band 16q23.3 — between genes, 35.7 kb from HSBP1.

What each result means

C/C No copy of the version the research linked to Keratoconus (PheCode 364.41). This is the starting point the study compared everyone against.
C/G One copy of the version the research linked to Keratoconus (PheCode 364.41). That is a smaller link than two copies.
G/G 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.
Source

Questions about rs181856846

What is rs181856846?

rs181856846 is a single position in the genome, in or near the near HSBP1 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 rs181856846 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 rs181856846 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 rs181856846 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) (rs181856846). MyGeneLog™. https://www.mygenelog.com/variants/rs181856846

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