EVC · rs2279252
Where this position leads
Condition: Kidney Function
What the study found
Who was studied 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.0333 lower (95% confidence interval 0.026-0.041); p = 2 × 10−19.
Where it sits Chromosome 4, band 4p16.2 — a missense change in CRMP1.
What ClinVar records
Classification
Benign/Likely benign for Ellis-van Creveld syndrome, Curry-Hall syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 9 submitters), last evaluated 2026-05-11.
ClinVar record 262771 NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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.
rs2279252 is a single position in the genome, in or near the EVC gene. Published research associates it with creatinine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Kidney Function. The research behind each link, and its sources, are set out on that condition page.
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.
GWAS Catalog, Nature communications 2025, PMID:40436827. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Creatinine levels (rs2279252). MyGeneLog™. https://www.mygenelog.com/variants/rs2279252