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Platelet count

MITF · rs6785461

Where this position leads

Condition: Blood Cell Counts

rs6785461 Condition: Blood Cell Counts Blood Cell Counts Condition rs6785461 rs6785461 MITF

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−33, with 2 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 A; the catalogue records no effect size ; p = 4 × 10−23.

How common The A allele had a frequency of about 62% in the people studied.

Where it sits Chromosome 3, band 3p13 — in an intron of MITF.

How common each version is

AG
Korean KRGDB
A 57.2% · G 42.8%
Korean Korea4K
A 56.6% · G 43.4%
Korean Korea1K
A 57.4% · G 42.6%
Japanese ToMMo
A 55.3% · G 44.7%
Vietnamese
A 39.1% · G 61.0%
World gnomAD
A 52.4% · G 47.6%
World 1000 Genomes
A 42.6% · G 57.4%
World TOPMed
A 50.7% · G 49.2%

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

Questions about rs6785461

What is rs6785461?

rs6785461 is a single position in the genome, in or near the MITF 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 rs6785461 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 rs6785461 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 rs6785461 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.

Quoting this page

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Platelet count (rs6785461). MyGeneLog™. https://www.mygenelog.com/variants/rs6785461

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