GJD2 · rs634990
Where this position leads
Condition: Myopia
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
What the study found
Who was studied 5,328 European ancestry individuals; replicated in 10,280 European ancestry individuals.
The effect Each copy of the C allele shifted the measure 0.23 diopter higher (95% confidence interval 0.228-0.232); p = 2 × 10−14.
How common The C allele had a frequency of about 47% in the people studied.
Where it sits Chromosome 15, band 15q14 — between genes, 8.2 kb from LOC124903463.
What people read about alongside this
Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.
2026-04-20 · Cheng FF, et al., Nature Genetics 2026, PMID:42009823
Refractive errors affect over half of the world's population. This meta-analysis covered people of European (1,495,159), East Asian (121,172) and African (144,737) ancestry and identified 932 associated variants, 241 of them previously unknown, four specific to East Asian ancestry and one to African ancestry. Fine-mapping pinpointed 16 high-confidence putative causal variants, and 23 prioritised genes are involved in eye development. A polygenic predictor built from the results explained 21.4% of the variation in refractive error and reached an area under the curve of 0.806 for predicting high myopia — a research result, not a test in clinical use. 245 of the study's positions are already on this site, 219 of them on the myopia page, including rs634990 (near GJD2), rs11602008 (LRRC4C) and rs10500355 (RBFOX1), which this site's cataract page also holds. PMID:42009823.
rs634990 is a single position in the genome, in or near the GJD2 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.
On MyGeneLog this position is linked to Myopia. The research behind each link, and its sources, are set out on that condition page.
Subjects that appear in the title or abstract of the same papers as this rsID include short-sightedness and screens (15 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.
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, Nat Genet 2010, PMID:20835239. 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 (rs634990). MyGeneLog™. https://www.mygenelog.com/variants/rs634990