Standard

Spermatocele (PheCode 603.2)

PDE1A · rs113792673

What the study found

Who was studied 475 African American or Afro-Caribbean cases, 103,802 African American or Afro-Caribbean controls, 2,233 European ancestry cases, 412,227 European ancestry controls, 254 Hispanic or Latin American cases, 53,139 Hispanic or Latin American controls.

The effect Each copy of the T allele shifted the measure 2.25 lower (95% confidence interval 2.19-2.3); p = 4 × 10−11.

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

Where it sits Chromosome 2, band 2q32.1 — in an intron of PDE1A.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Spermatocele (PheCode 603.2) — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Spermatocele (PheCode 603.2).
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Spermatocele (PheCode 603.2) compared to the general population.
Source

Questions about rs113792673

What is rs113792673?

rs113792673 is a single position in the genome, in or near the PDE1A gene. Published research associates it with spermatocele (phecode 603.2). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs113792673 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 rs113792673 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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Spermatocele (PheCode 603.2) (rs113792673). MyGeneLog™. https://www.mygenelog.com/variants/rs113792673

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