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2-aminooctanoate levels

ALMS1 · rs7603647

What the study found

Who was studied 2,466 Black/admixed ancestry individuals; replicated in up to 1,653 European, Hispanic, Asian or Black individuals.

The effect Each copy of the A allele shifted the measure 0.493 lower (95% confidence interval 0.44-0.55); p = 1 × 10−64.

Where it sits Chromosome 2, band 2p13.1 — in an intron of ALMS1.

What each result means

A/A Two copies of the version the research linked to 2-aminooctanoate levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to 2-aminooctanoate levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to 2-aminooctanoate levels. This is the starting point the study compared everyone against.
Source

Questions about rs7603647

What is rs7603647?

rs7603647 is a single position in the genome, in or near the ALMS1 gene. Published research associates it with 2-aminooctanoate levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs7603647 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 rs7603647 come from?

GWAS Catalog, Nature communications 2022, PMID:35995766. 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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2-aminooctanoate levels (rs7603647). MyGeneLog™. https://www.mygenelog.com/variants/rs7603647

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