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Metabolite levels (proline)

near DGCR5 · rs114023431

What the study found

Who was studied 11,814 European, Hispanic or African American individuals; replicated in up to 2,466 African American individuals, up to 15,619 European ancestry individuals, 1,734 Hispanic ancestry children.

The effect Each copy of the G allele shifted the measure 0.268 higher (95% confidence interval 0.2-0.34); p = 4 × 10−15.

How common The G allele had a frequency of about 4% in the people studied.

Where it sits Chromosome 22, band 22q11.21 — between genes, 15.4 kb from DGCR5.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Metabolite levels (proline) — no copies of the reported risk allele.
C/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Metabolite levels (proline).
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Metabolite levels (proline) compared to the general population.
Source

Questions about rs114023431

What is rs114023431?

rs114023431 is a single position in the genome, in or near the near DGCR5 gene. Published research associates it with metabolite levels (proline). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs114023431 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 rs114023431 come from?

GWAS Catalog, Nature communications 2023, PMID:37253714. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Metabolite levels (proline) (rs114023431). MyGeneLog™. https://www.mygenelog.com/variants/rs114023431

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