Sensitive

Plasma proline levels in chronic kidney disease

PRODH · rs2904552

What the study found

Who was studied 4,960 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.181 higher (95% confidence interval 0.16-0.2); p = 4 × 10−66.

How common The T allele had a frequency of about 11% in the people studied.

Where it sits Chromosome 22, band 22q11.21 — a missense change in PRODH.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Proline dehydrogenase deficiency, Schizophrenia 4; criteria provided, conflicting classifications (1 of 4 stars, 8 submitters), last evaluated 2026-02-01. ClinVar record 4011 NM_016335.6(PRODH):c.1292G>A (p.Arg431His)

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Plasma proline levels in chronic kidney disease — 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 Plasma proline levels in chronic kidney disease.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Plasma proline levels in chronic kidney disease compared to the general population.
Source

Questions about rs2904552

What is rs2904552?

rs2904552 is a single position in the genome, in or near the PRODH gene. Published research associates it with plasma proline levels in chronic kidney disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2904552 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 rs2904552 come from?

GWAS Catalog, Nature genetics 2023, PMID:37277652. 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 proline levels in chronic kidney disease (rs2904552). MyGeneLog™. https://www.mygenelog.com/variants/rs2904552

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