Standard

Hypertrophic obstructive cardiomyopathy (PheCode 425.11)

MEF2C-AS1 · rs187362465

Where this position leads

Condition: Hypertrophic Obstructive Cardiomyopathy

rs187362465 Condition: Hypertrophic Obstructive Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy Condition rs187362465 rs187362465 MEF2C-AS1

What the study found

Who was studied 275 African American or Afro-Caribbean cases, 121,450 African American or Afro-Caribbean controls, 715 European ancestry cases, 450,257 European ancestry controls.

The effect Each copy of the G allele shifted the measure 3.36 lower (95% confidence interval 3.34-3.39); p = 4 × 10−12.

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

Where it sits Chromosome 5, band 5q14.3 — in an intron of MEF2C-AS1.

What each result means

A/A No copy of the version the research linked to Hypertrophic obstructive cardiomyopathy (PheCode 425.11). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Hypertrophic obstructive cardiomyopathy (PheCode 425.11). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Hypertrophic obstructive cardiomyopathy (PheCode 425.11). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs187362465

What is rs187362465?

rs187362465 is a single position in the genome, in or near the MEF2C-AS1 gene. Published research associates it with hypertrophic obstructive cardiomyopathy (phecode 425.11). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs187362465 linked to?

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

Does having rs187362465 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 rs187362465 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.

Hypertrophic obstructive cardiomyopathy (PheCode 425.11) (rs187362465). MyGeneLog™. https://www.mygenelog.com/variants/rs187362465

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