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Platelet count during first trimester of pregnancy

RCL1 · rs402133

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−21, with 4 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 72,816 Chinese ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.126 lower (95% confidence interval 0.1-0.15); p = 2 × 10−21.

How common The C allele had a frequency of about 16% in the people studied.

Where it sits Chromosome 9, band 9p24.1 — in an intron of RCL1.

What each result means

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

Questions about rs402133

What is rs402133?

rs402133 is a single position in the genome, in or near the RCL1 gene. Published research associates it with platelet count during first trimester of pregnancy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs402133 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 rs402133 come from?

GWAS Catalog, Blood 2024, PMID:38064665. 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 during first trimester of pregnancy (rs402133). MyGeneLog™. https://www.mygenelog.com/variants/rs402133

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