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N-acetylcarnosine levels

EFCAB11 · rs189640071

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 8,809 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.495 higher (95% confidence interval 0.36-0.63); p = 1 × 10⁻¹².

Where it sits Chromosome 14, band 14q32.11 — inside EFCAB11.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of N-acetylcarnosine levels — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with N-acetylcarnosine levels.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of N-acetylcarnosine levels compared to the general population.

Source

Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels

Hysi PG, Mangino M, Christofidou P, Falchi M, Karoly ED, Nihr Bioresource Investigators, Mohney RP, Valdes AM, Spector TD, Menni C

Metabolites · 2022 · PMID 35050183 · open access

Questions about rs189640071

What is rs189640071?

rs189640071 is a single position in the genome, in or near the EFCAB11 gene. Published research associates it with n-acetylcarnosine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs189640071 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 rs189640071 come from?

GWAS Catalog, Metabolites 2022, PMID:35050183. 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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N-acetylcarnosine levels (rs189640071). MyGeneLog™. https://www.mygenelog.com/variants/rs189640071

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