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Macular telangiectasia type 2

LINC00461 · rs73173548

What the study found

Who was studied 476 European ancestry cases, 1,733 European ancestry controls; replicated in 172 European ancestry cases, 1,134 European ancestry controls.

The effect Each copy of the G allele carried 2.40 times the odds of Macular telangiectasia type 2 (95% confidence interval 1.99–2.90); p = 7 × 10−20.

How common The G allele had a frequency of about 8% in the people studied.

Where it sits Chromosome 5, band 5q14.3 — in an intron of MIR9-2HG.

What each result means

G/G Two copies of the version the research linked to Macular telangiectasia type 2. That is the strongest link of the three results. A link in a study is not a diagnosis.
G/T One copy of the version the research linked to Macular telangiectasia type 2. That is a smaller link than two copies.
T/T No copy of the version the research linked to Macular telangiectasia type 2. This is the starting point the study compared everyone against.
Source

Questions about rs73173548

What is rs73173548?

rs73173548 is a single position in the genome, in or near the LINC00461 gene. Published research associates it with macular telangiectasia type 2. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs73173548 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 rs73173548 come from?

GWAS Catalog, Nat Genet 2017, PMID:28250457. 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.

Macular telangiectasia type 2 (rs73173548). MyGeneLog™. https://www.mygenelog.com/variants/rs73173548

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