Standard

Platelet count

MITF · rs7611020

Where this position leads

Condition: Blood Cell Counts

rs7611020 Condition: Blood Cell Counts Blood Cell Counts Condition rs7611020 rs7611020 MITF

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, 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 408,112 British individuals.

The effect Each copy of the A allele shifted the measure 0.0198 lower (95% confidence interval 0.015-0.024); p = 2 × 10−17.

How common The A allele had a frequency of about 65% in the people studied.

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

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 rs7611020

What is rs7611020?

rs7611020 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 rs7611020 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 rs7611020 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 rs7611020 come from?

GWAS Catalog, Cell 2020, PMID:32888494. 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 (rs7611020). MyGeneLog™. https://www.mygenelog.com/variants/rs7611020

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