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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 24,493 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.018 mm2 lower (95% confidence interval 0.014-0.022); p = 4 × 10−15.
How common The T allele had a frequency of about 42% in the people studied.
Where it sits Chromosome 20, band 20p12.3 — between genes, 23.8 kb from CASC20.
What each result means
G/GNo copy of the version the research linked to Optic cup area. This is the starting point the study compared everyone against.
G/TOne copy of the version the research linked to Optic cup area. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Optic cup area. That is the strongest link of the three results. A link in a study is not a diagnosis.
Communications biology · 2019 · PMID 31798171 · open access
Questions about rs6054383
What is rs6054383?
rs6054383 is a single position in the genome, in or near the BMP2 gene. Published research associates it with optic cup area. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs6054383 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 rs6054383 come from?
GWAS Catalog, Communications biology 2019, PMID:31798171. 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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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.
Optic cup area (rs6054383). MyGeneLog™. https://www.mygenelog.com/variants/rs6054383