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High altitude adaptation

NEK7 · rs78720557

What the study found

Who was studied 3,008 Tibetan (founder/genetic isolate) individuals and 7,287 East Asian individuals.

The effect The reported allele is A; the catalogue records no effect size ; p = 5 × 10−8.

How common The A allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 1, band 1q31.3 — between genes, 29.5 kb from NEK7.

What each result means

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

Questions about rs78720557

What is rs78720557?

rs78720557 is a single position in the genome, in or near the NEK7 gene. Published research associates it with high altitude adaptation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs78720557 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 rs78720557 come from?

GWAS Catalog, Proc Natl Acad Sci U S A 2017, PMID:28373541. 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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High altitude adaptation (rs78720557). MyGeneLog™. https://www.mygenelog.com/variants/rs78720557

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