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Plasma free amino acid levels

CPS1 · rs4673546

What the study found

Who was studied 1,338 Japanese ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.9 higher (95% confidence interval 0.8-1); p = 6 × 10−71.

How common The C allele had a frequency of about 16% in the people studied.

Where it sits Chromosome 2, band 2q34 — between genes, 21.9 kb from CPS1.

What each result means

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

Questions about rs4673546

What is rs4673546?

rs4673546 is a single position in the genome, in or near the CPS1 gene. Published research associates it with plasma free amino acid levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs4673546 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 rs4673546 come from?

GWAS Catalog, European journal of human genetics : EJHG 2019, PMID:30659259. 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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Plasma free amino acid levels (rs4673546). MyGeneLog™. https://www.mygenelog.com/variants/rs4673546

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