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Its strongest genetic-study result is p = 10−14, 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 639,696 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.
The effect
The reported allele is A; the catalogue records no effect size
; p = 8 × 10−15.
How common The A allele had a frequency of about 40% in the people studied.
Where it sits Chromosome 8, band 8p23.1 — between genes, 1.1 kb from OR7E161P.
How common each version is
AT
KoreanKRGDB
A 2.1% · T 97.9%
KoreanKorea4K
A 1.5% · T 98.5%
KoreanKorea1K
A 1.3% · T 98.7%
Japanese ToMMo
A 0.7% · T 99.3%
World gnomAD
A 37.5% · T 62.5%
World 1000 Genomes
A 28.8% · T 71.2%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
What each result means
A/ATwo 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.
A/TOne copy of the version the research linked to Monocyte count. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Monocyte count. This is the starting point the study compared everyone against.
rs57928712 is a single position in the genome, in or near the near CTSB 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 rs57928712 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 rs57928712 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 rs57928712 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
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license