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Its strongest genetic-study result is p = 10−128, with 3 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 721,201 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 C; the catalogue records no effect size
; p = 6 × 10−129.
How common The C allele had a frequency of about 45% in the people studied.
Where it sits Chromosome 6, band 6p22.2 — in an intron of CARMIL1.
How common each version is
CG
KoreanKRGDB
C 40.9% · G 59.1%
KoreanKorea4K
C 40.7% · G 59.3%
KoreanKorea1K
C 41.3% · G 58.7%
Japanese ToMMo
C 46.5% · G 53.5%
World gnomAD
C 43.5% · G 56.5%
World 1000 Genomes
C 44.7% · G 55.3%
World TOPMed
C 43.7% · G 56.3%
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
C/CTwo copies of the version the research linked to Platelet count. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/GOne copy of the version the research linked to Platelet count. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Platelet count. This is the starting point the study compared everyone against.
rs214056 is a single position in the genome, in or near the CARMIL1 gene. Published research associates it with platelet 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 rs214056 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 rs214056 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 rs214056 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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