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Primary angle-closure glaucoma (PheCode 365.2)

PCMTD1 · rs374522377

Where this position leads

Condition: Glaucoma

rs374522377 Condition: Glaucoma Glaucoma Condition rs374522377 rs374522377 PCMTD1

What the study found

Who was studied 2,113 African American or Afro-Caribbean cases, 117,948 African American or Afro-Caribbean controls, 7,129 European ancestry cases, 439,835 European ancestry controls, 1,066 Hispanic or Latin American cases, 58,199 Hispanic or Latin American controls.

The effect Each copy of the A allele shifted the measure 0.454 lower (95% confidence interval 0.39-0.52); p = 7 × 10−18.

How common The A allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 8, band 8q11.23 — in an intron of PCMTD1.

What each result means

A/A Two copies of the version the research linked to Primary angle-closure glaucoma (PheCode 365.2). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/T One copy of the version the research linked to Primary angle-closure glaucoma (PheCode 365.2). That is a smaller link than two copies.
T/T No copy of the version the research linked to Primary angle-closure glaucoma (PheCode 365.2). This is the starting point the study compared everyone against.
Source

Questions about rs374522377

What is rs374522377?

rs374522377 is a single position in the genome, in or near the PCMTD1 gene. Published research associates it with primary angle-closure glaucoma (phecode 365.2). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs374522377 linked to?

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

Does having rs374522377 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 rs374522377 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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Primary angle-closure glaucoma (PheCode 365.2) (rs374522377). MyGeneLog™. https://www.mygenelog.com/variants/rs374522377

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