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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 0.01 higher; p = 2 × 10−10.
How common The T allele had a frequency of about 67% in the people studied.
Where it sits Chromosome 1, band 1q24.2 — a missense change in F5.
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.
rs6030 is a single position in the genome, in or near the F5 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 rs6030 affect how medicines work?
F5 carries pharmacogenomic findings for Combined hormonal contraceptives. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.
Does having rs6030 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 rs6030 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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