Standard

Hypertrophic obstructive cardiomyopathy (PheCode 425.11)

near LINC02496 · rs183946216

Where this position leads

Condition: Hypertrophic Obstructive Cardiomyopathy

rs183946216 Condition: Hypertrophic Obstructive Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy Condition rs183946216 rs183946216 near LINC024…

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 1.87 lower (95% confidence interval 1.81-1.93); p = 2 × 10−13.

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

Where it sits Chromosome 4, band 4q13.1 — between genes, 15.7 kb from LINC02496.

What each result means

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.
G/T One copy of the version the research linked to Hypertrophic obstructive cardiomyopathy (PheCode 425.11). That is a smaller link than two copies.
T/T 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.
Source

Questions about rs183946216

What is rs183946216?

rs183946216 is a single position in the genome, in or near the near LINC02496 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 rs183946216 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 rs183946216 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 rs183946216 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) (rs183946216). MyGeneLog™. https://www.mygenelog.com/variants/rs183946216

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