CYP4V2 · rs532291947
Where this position leads
Condition: Celiac Disease
Strength of the evidence
Its strongest genetic-study result is p = 10−13, with 1 associations in the GWAS Catalog.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 47,745 European ancestry individuals.
The effect Each copy of the C allele shifted the measure 0.33 higher (95% confidence interval 0.23-0.43); p = 3 × 10−13.
How common The C allele had a frequency of about 0% in the people studied.
Where it sits Chromosome 4, band 4q35.2 — in the 3′ untranslated region of CYP4V2.
What ClinVar records
Classification
Uncertain significance for Bietti crystalline corneoretinal dystrophy, Corneal dystrophy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-01-12.
ClinVar record 901589 NM_207352.4(CYP4V2):c.*2590T>C
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
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.
rs532291947 is a single position in the genome, in or near the CYP4V2 gene. Published research associates it with tlr3 protein 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 Celiac Disease. 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 genetics 2025, PMID:39789286. 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.
TLR3 protein levels (rs532291947). MyGeneLog™. https://www.mygenelog.com/variants/rs532291947