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Platelet large cell ratio

TAOK1 · rs602056

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−90, with 5 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 37,935 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.144 SD units lower (95% confidence interval 0.13-0.16); p = 2 × 10−90.

How common The T allele had a frequency of about 48% in the people studied.

Where it sits Chromosome 17, band 17q11.2 — in the 3′ untranslated region of TAOK1.

How common each version is

CT
Korean KRGDB
C 97.0% · T 3.0%
Korean Korea4K
C 96.9% · T 3.1%
Korean Korea1K
C 96.2% · T 3.8%
Japanese ToMMo
C 97.6% · T 2.4%
Vietnamese
C 99.5% · T 0.5%
World gnomAD
C 62.4% · T 37.6%
World 1000 Genomes
C 72.9% · T 27.1%
World TOPMed
C 63.2% · T 36.8%

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/C No copy of the version the research linked to Platelet large cell ratio. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Platelet large cell ratio. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Platelet large cell ratio. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs602056

What is rs602056?

rs602056 is a single position in the genome, in or near the TAOK1 gene. Published research associates it with platelet large cell ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs602056 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 rs602056 come from?

GWAS Catalog, Nature communications 2023, PMID:37596262. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Platelet large cell ratio (rs602056). MyGeneLog™. https://www.mygenelog.com/variants/rs602056

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