DIS3L2 · rs75014001
Where this position leads
Condition: Age-Related Macular Degeneration
Strength of the evidence
Its strongest genetic-study result is p = 10−18, with 1 associations in the GWAS Catalog.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 98,316 European ancestry individuals.
The effect Each copy of the T allele shifted the measure 0.885 higher (95% confidence interval 0.69-1.08); p = 5 × 10−19.
How common The T allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 2, band 2q37.1 — in an intron of DIS3L2.
rs75014001 is a single position in the genome, in or near the DIS3L2 gene. Published research associates it with free cholesterol to cholesteryl esters in very large hdl ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Age-Related Macular Degeneration. The research behind each link, and its sources, are set out on that condition page.
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.
GWAS Catalog, Ophthalmology science 2024, PMID:39091897. 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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Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio (rs75014001). MyGeneLog™. https://www.mygenelog.com/variants/rs75014001