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Hemoglobin concentration

TRPS1 · rs1384810

Where this position leads

Condition: Blood Cell Counts

rs1384810 Condition: Blood Cell Counts Blood Cell Counts Condition rs1384810 rs1384810 TRPS1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, 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 46,904 European ancestry males; replicated in 80,822 European ancestry males.

The effect Each copy of the C allele shifted the measure 0.0237 lower; p = 2 × 10−10.

How common The C allele had a frequency of about 45% in the people studied.

Where it sits Chromosome 8, band 8q23.3 — in an intron of TRPS1.

What each result means

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

Questions about rs1384810

What is rs1384810?

rs1384810 is a single position in the genome, in or near the TRPS1 gene. Published research associates it with hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1384810 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 rs1384810 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 rs1384810 come from?

GWAS Catalog, The Journal of nutritional biochemistry 2023, PMID:35964923. 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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Hemoglobin concentration (rs1384810). MyGeneLog™. https://www.mygenelog.com/variants/rs1384810

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