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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 1,368 European ancestry twins from 666 families; replicated in 848 European ancestry twins from 531 families.
The effect
Each copy of the G allele shifted the measure 0.313 higher (95% confidence interval 0.21-0.42); p = 2 × 10−10.
Where it sits Chromosome 10, band 10q21.3 — between genes, 0.7 kb from KRT19P4.
What each result means
A/ANo copy of the version the research linked to Optic nerve measurement (disc area). This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Optic nerve measurement (disc area). That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Optic nerve measurement (disc area). That is the strongest link of the three results. A link in a study is not a diagnosis.
Human molecular genetics · 2010 · PMID 20395239 · open access
Questions about rs12571093
What is rs12571093?
rs12571093 is a single position in the genome, in or near the PBLD gene. Published research associates it with optic nerve measurement (disc area). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs12571093 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 rs12571093 come from?
GWAS Catalog, Hum Mol Genet 2010, PMID:20395239. 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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