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Its strongest genetic-study result is p = 10−12, 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 562,259 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.0144 SD unit higher (95% confidence interval 0.01-0.018); p = 9 × 10−13.
How common The C allele had a frequency of about 30% in the people studied.
Where it sits Chromosome 9, band 9q31.2 — between genes, 3.8 kb from ZNF462.
What each result means
C/CTwo copies of the version the research linked to Hematocrit. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Hematocrit. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Hematocrit. This is the starting point the study compared everyone against.
rs12343333 is a single position in the genome, in or near the near ZNF462 gene. Published research associates it with hematocrit. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs12343333 linked to?
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.
Does having rs12343333 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 rs12343333 come from?
GWAS Catalog, Cell 2020, PMID:32888493. 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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