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Open wound of hand except finger(s) (PheCode 871.1)

KCNQ5 · rs529978709

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 1 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 469 African American or Afro-Caribbean cases, 119,791 African American or Afro-Caribbean controls, 2,522 European ancestry cases, 439,837 European ancestry controls, 306 Hispanic or Latin American cases, 58,529 Hispanic or Latin American controls.

The effect Each copy of the A allele shifted the measure 3.53 lower (95% confidence interval 3.51-3.55); p = 1 × 10−11.

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

Where it sits Chromosome 6, band 6q13 — in an intron of KCNQ5.

What each result means

A/A Two copies of the version the research linked to Open wound of hand except finger(s) (PheCode 871.1). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/T One copy of the version the research linked to Open wound of hand except finger(s) (PheCode 871.1). That is a smaller link than two copies.
T/T No copy of the version the research linked to Open wound of hand except finger(s) (PheCode 871.1). This is the starting point the study compared everyone against.
Source

Questions about rs529978709

What is rs529978709?

rs529978709 is a single position in the genome, in or near the KCNQ5 gene. Published research associates it with open wound of hand except finger(s) (phecode 871.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs529978709 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 rs529978709 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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Open wound of hand except finger(s) (PheCode 871.1) (rs529978709). MyGeneLog™. https://www.mygenelog.com/variants/rs529978709

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