Standard

Perforation of tympanic membrane (PheCode 384.4)

HDAC9 · rs756854

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 2 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 361 African American or Afro-Caribbean cases, 121,178 African American or Afro-Caribbean controls, 2,952 European ancestry cases, 445,764 European ancestry controls, 441 Hispanic or Latin American cases, 59,162 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 0.17 lower (95% confidence interval 0.13-0.21); p = 2 × 10−11.

How common The C allele had a frequency of about 57% in the people studied.

Where it sits Chromosome 7, band 7p21.1 — in an intron of HDAC9.

What each result means

C/C Two copies of the version the research linked to Perforation of tympanic membrane (PheCode 384.4). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Perforation of tympanic membrane (PheCode 384.4). That is a smaller link than two copies.
T/T No copy of the version the research linked to Perforation of tympanic membrane (PheCode 384.4). This is the starting point the study compared everyone against.
Source

Questions about rs756854

What is rs756854?

rs756854 is a single position in the genome, in or near the HDAC9 gene. Published research associates it with perforation of tympanic membrane (phecode 384.4). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs756854 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 rs756854 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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Perforation of tympanic membrane (PheCode 384.4) (rs756854). MyGeneLog™. https://www.mygenelog.com/variants/rs756854

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