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Its strongest genetic-study result is p = 10−10, 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 491,553 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.0192 SD unit higher (95% confidence interval 0.013-0.025); p = 5 × 10−11.
How common The A allele had a frequency of about 14% in the people studied.
Where it sits Chromosome 3, band 3q21.2 — in an intron of KALRN.
What each result means
A/ATwo copies of the version the research linked to Mean corpuscular hemoglobin concentration. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Mean corpuscular hemoglobin concentration. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Mean corpuscular hemoglobin concentration. This is the starting point the study compared everyone against.
rs11720789 is a single position in the genome, in or near the KALRN gene. Published research associates it with mean corpuscular hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs11720789 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 rs11720789 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 rs11720789 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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Mean corpuscular hemoglobin concentration (rs11720789). MyGeneLog™. https://www.mygenelog.com/variants/rs11720789