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CD3 on HLA DR+ T cell

CIITA · rs12596540

What the study found

Who was studied 3,060 Sardinian (founder/genetic isolate) ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.206 higher (95% confidence interval 0.15-0.27); p = 2 × 10−11.

How common The G allele had a frequency of about 25% in the people studied.

Where it sits Chromosome 16, band 16p13.13 — in an intron of CIITA.

What each result means

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

Questions about rs12596540

What is rs12596540?

rs12596540 is a single position in the genome, in or near the CIITA gene. Published research associates it with cd3 on hla dr+ 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 rs12596540 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 rs12596540 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 HLA DR+ T cell (rs12596540). MyGeneLog™. https://www.mygenelog.com/variants/rs12596540

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