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Who was studied at least 29,241 European ancestry cases, at least 350,181 European ancestry controls (MTAG boosted by vertical cup-to-disc ratio and intraocular pressure samples).
The effect
Each copy of the T allele shifted the measure 0.0652 higher (95% confidence interval 0.045-0.085); p = 9 × 10−11.
Where it sits Chromosome 21, band 21q22.2 — between genes, 3.8 kb from ERG.
What each result means
C/CNo copy of the version the research linked to Primary open angle glaucoma (MTAG). This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Primary open angle glaucoma (MTAG). That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Primary open angle glaucoma (MTAG). That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2023 · PMID 37386247 · open access
Questions about rs994003
What is rs994003?
rs994003 is a single position in the genome, in or near the near ERG gene. Published research associates it with primary open angle glaucoma (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs994003 linked to?
On MyGeneLog this position is linked to Glaucoma. The research behind each link, and its sources, are set out on that condition page.
Does having rs994003 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 rs994003 come from?
GWAS Catalog, Nature genetics 2023, PMID:37386247. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 22Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon0Apple0China (ByteDance, Huawei, Baidu…)0Others2Total2Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
Quoting this page
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.
Primary open angle glaucoma (MTAG) (rs994003). MyGeneLog™. https://www.mygenelog.com/variants/rs994003