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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 52,798 European ancestry individuals; replicated in 4,987 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.033 higher (95% confidence interval 0.027-0.039); p = 1 × 10−27.
How common The T allele had a frequency of about 31% in the people studied.
Where it sits Chromosome 12, band 12q21.2 — in an intron of PPP1R12A-AS2.
What each result means
C/CNo copy of the version the research linked to Retinal arteriolar tortuosity. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Retinal arteriolar tortuosity. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Retinal arteriolar tortuosity. That is the strongest link of the three results. A link in a study is not a diagnosis.
PLoS genetics · 2023 · PMID 36757925 · open access
Questions about rs12827748
What is rs12827748?
rs12827748 is a single position in the genome, in or near the PPP1R12A-AS2 gene. Published research associates it with retinal arteriolar tortuosity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs12827748 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 rs12827748 come from?
GWAS Catalog, PLoS genetics 2023, PMID:36757925. 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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