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Who was studied 139,555 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.101 higher (95% confidence interval 0.068-0.134); p = 3 × 10−9.
How common The T allele had a frequency of about 83% in the people studied.
Where it sits Chromosome 2, band 2p16.2 — between genes, 12.9 kb from SPTBN1.
What each result means
C/CNo copy of the version the research linked to Intraocular pressure. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Intraocular pressure. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Intraocular pressure. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2018 · PMID 29785010 · open access
Questions about rs4671217
What is rs4671217?
rs4671217 is a single position in the genome, in or near the SPTBN1 gene. Published research associates it with intraocular pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs4671217 linked to?
On MyGeneLog this position is linked to Intraocular Pressure. The research behind each link, and its sources, are set out on that condition page.
Does having rs4671217 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 rs4671217 come from?
GWAS Catalog, Nature genetics 2018, PMID:29785010. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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