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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 67,040 British ancestry individuals; replicated in 28,509 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.02 higher; p = 4 × 10−18.
How common The T allele had a frequency of about 21% in the people studied.
Where it sits Chromosome 16, band 16q12.1 — between genes, 14.2 kb from HNRNPA1L3.
What each result means
C/CNo copy of the version the research linked to Optic disc size. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Optic disc size. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Optic disc size. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs28514893 is a single position in the genome, in or near the SALL1 gene. Published research associates it with optic disc size. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs28514893 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 rs28514893 come from?
GWAS Catalog, Human molecular genetics 2019, PMID:31809533. 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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