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CD3 on resting CD4 regulatory T cell

CD247 · rs1214596

What the study found

Who was studied 2,918 Sardinian (founder/genetic isolate) ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.652 higher (95% confidence interval 0.6-0.7); p = 2 × 10−136.

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

Where it sits Chromosome 1, band 1q24.2 — in a non-coding transcript of CD247.

What each result means

A/A Two copies of the version the research linked to CD3 on resting CD4 regulatory T cell. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/T One copy of the version the research linked to CD3 on resting CD4 regulatory T cell. That is a smaller link than two copies.
T/T No copy of the version the research linked to CD3 on resting CD4 regulatory T cell. This is the starting point the study compared everyone against.
Source

Questions about rs1214596

What is rs1214596?

rs1214596 is a single position in the genome, in or near the CD247 gene. Published research associates it with cd3 on resting cd4 regulatory t cell. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1214596 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 rs1214596 come from?

GWAS Catalog, Nature genetics 2020, PMID:32929287. 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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CD3 on resting CD4 regulatory T cell (rs1214596). MyGeneLog™. https://www.mygenelog.com/variants/rs1214596

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