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Optic cup area

DCLK1 · rs9546434

What the study found

Who was studied 15,087 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals; replicated in 2,363 Chinese ancestry individuals, 2,225 Malay ancestry individuals, 2,025 Indian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.021 higher (95% confidence interval 0.015-0.027); p = 2 × 10−11.

How common The T allele had a frequency of about 23% in the people studied.

Where it sits Chromosome 13, band 13q13.3 — in an intron of DCLK1.

What each result means

C/C No copy of the version the research linked to Optic cup area. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Optic cup area. That is a smaller link than two copies.
T/T Two 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.
Source

Questions about rs9546434

What is rs9546434?

rs9546434 is a single position in the genome, in or near the DCLK1 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 rs9546434 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 rs9546434 come from?

GWAS Catalog, Genetic epidemiology 2015, PMID:25631615. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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 (rs9546434). MyGeneLog™. https://www.mygenelog.com/variants/rs9546434

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