Standard

platelet count (maximum, inv-norm transformed)

PVT1 · rs4484653

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, 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 406,601 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0201 higher (95% confidence interval 0.014-0.026); p = 3 × 10−12.

How common The C allele had a frequency of about 46% in the people studied.

Where it sits Chromosome 8, band 8q24.21 — in an intron of PVT1.

What each result means

A/A No copy of the version the research linked to platelet count (maximum, inv-norm transformed). This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to platelet count (maximum, inv-norm transformed). That is a smaller link than two copies.
C/C Two copies of the version the research linked to platelet count (maximum, inv-norm transformed). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs4484653

What is rs4484653?

rs4484653 is a single position in the genome, in or near the PVT1 gene. Published research associates it with platelet count (maximum, inv-norm transformed). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs4484653 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 rs4484653 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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 (maximum, inv-norm transformed) (rs4484653). MyGeneLog™. https://www.mygenelog.com/variants/rs4484653

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