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Rupture of synovium (PheCode 727.5)

CACNA2D3 · rs187398351

What the study found

Who was studied 686 African American or Afro-Caribbean cases, 119,677 African American or Afro-Caribbean controls, 1,958 European ancestry cases, 444,943 European ancestry controls, 226 Hispanic or Latin American cases, 59,181 Hispanic or Latin American controls.

The effect Each copy of the A allele shifted the measure 3.91 lower (95% confidence interval 3.89-3.92); p = 1 × 10−12.

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

Where it sits Chromosome 3, band 3p14.3 — in an intron of CACNA2D3.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Rupture of synovium (PheCode 727.5) compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Rupture of synovium (PheCode 727.5).
G/G Published research associates this genotype with typical/baseline likelihood of Rupture of synovium (PheCode 727.5) — no copies of the reported risk allele.
Source

Questions about rs187398351

What is rs187398351?

rs187398351 is a single position in the genome, in or near the CACNA2D3 gene. Published research associates it with rupture of synovium (phecode 727.5). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs187398351 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 rs187398351 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.

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Rupture of synovium (PheCode 727.5) (rs187398351). MyGeneLog™. https://www.mygenelog.com/variants/rs187398351

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