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Standard

Platelet count

HDAC9 · rs17138751

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−41, 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 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 T; the catalogue records no effect size ; p = 7 × 10−42.

How common The T allele had a frequency of about 23% in the people studied.

Where it sits Chromosome 7, band 7p21.1 — in an intron of HDAC9.

How common each version is

GT
Korean KRGDB
G 66.2% · T 33.8%
Korean Korea4K
G 67.5% · T 32.5%
Korean Korea1K
G 66.6% · T 33.4%
Japanese ToMMo
G 66.8% · T 33.2%
Vietnamese
G 69.6% · T 30.4%
World gnomAD
G 83.0% · T 17.1%
World 1000 Genomes
G 80.2% · T 19.8%
World TOPMed
G 83.8% · T 16.2%

By ancestry gnomAD

East Asian
G 68.0% · T 32.0%
European (non-Finnish)
G 79.0% · T 21.0%
African / African American
G 92.8% · T 7.2%
South Asian
G 66.1% · T 33.9%
Admixed American (Latino)
G 84.5% · T 15.5%
Middle Eastern
G 78.6% · T 21.4%
Finnish
G 82.6% · T 17.4%
Ashkenazi Jewish
G 83.4% · T 16.6%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

G/G No copy of the version the research linked to Platelet count. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Platelet count. That is a smaller link than two copies.
T/T Two 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.
Source

Quoting this page

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Platelet count (rs17138751). MyGeneLog™. https://www.mygenelog.com/variants/rs17138751

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