C14orf39 · rs146737847
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 51,624 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.302 lower (95% confidence interval 0.23-0.37); p = 2 × 10−16.
Where it sits Chromosome 14, band 14q23.1 — a missense change in C14orf39.
What ClinVar records
Classification
Conflicting classifications of pathogenicity for Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia-microphthalmia syndrome, SIX6-related disorder; criteria provided, conflicting classifications (1 of 4 stars, 6 submitters), last evaluated 2026-01-27.
ClinVar record 445796 NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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.
rs146737847 is a single position in the genome, in or near the C14orf39 gene. Published research associates it with refractive error. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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, Human molecular genetics 2022, PMID:35022715. 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.
Refractive error (rs146737847). MyGeneLog™. https://www.mygenelog.com/variants/rs146737847