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Its strongest genetic-study result is p = 10−13, with 4 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 408,112 British individuals.
The effect
Each copy of the T allele shifted the measure 0.0348 lower (95% confidence interval 0.026-0.044); p = 2 × 10−13.
How common The T allele had a frequency of about 6% in the people studied.
Where it sits Chromosome 19, band 19p13.13 — in an intron of MAST1.
What each result means
C/CNo copy of the version the research linked to Monocyte count. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Monocyte count. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Monocyte count. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs117758012 is a single position in the genome, in or near the HOOK2 gene. Published research associates it with monocyte count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs117758012 linked to?
On MyGeneLog this position is linked to Blood Cell Counts, Monocyte Count. The research behind each link, and its sources, are set out on that condition page.
Does having rs117758012 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 rs117758012 come from?
GWAS Catalog, Cell 2020, PMID:32888494. 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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Quoting this page
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