HECTD4 · rs16942011
Where this position leads
Condition: Blood Cell Counts
Strength of the evidence
Its strongest genetic-study result is p = 10−25, with 2 associations in the GWAS Catalog.
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 234,763 European ancestry individuals; replicated in 100,553 European ancestry individuals.
The effect The reported allele is A; the catalogue records no effect size ; p = 8 × 10−26.
How common The A allele had a frequency of about 92% in the people studied.
Where it sits Chromosome 12, band 12q24.13 — in an intron of HECTD4.
rs16942011 is a single position in the genome, in or near the HECTD4 gene. Published research associates it with eosinophil count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.
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.
GWAS Catalog, American journal of human genetics 2021, PMID:34469753. 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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Eosinophil count (rs16942011). MyGeneLog™. https://www.mygenelog.com/variants/rs16942011