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Its strongest genetic-study result is p = 10−32, with 13 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 164,339 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.231 higher (95% confidence interval 0.15-0.31); p = 6 × 10−9.
How common The C allele had a frequency of about 0% in the people studied.
Where it sits Chromosome 22, band 22q12.1 — in an intron of CHEK2.
How common each version is
CT
World gnomAD
C 0.2% · T 99.8%
World 1000 Genomes
C 0.1% · T 99.9%
World TOPMed
C 0.1% · T 99.9%
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. No Korean figure for this position yet.
What each result means
C/CTwo copies of the version the research linked to Plateletcrit. 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 Plateletcrit. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Plateletcrit. This is the starting point the study compared everyone against.
rs186430430 is a single position in the genome, in or near the CHEK2 gene. Published research associates it with plateletcrit. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs186430430 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 rs186430430 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 rs186430430 come from?
GWAS Catalog, Cell 2016, PMID:27863252. 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