ALDH1A2 · rs493258
Where this position leads
Condition: Age-Related Macular Degeneration
Strength of the evidence
Its strongest genetic-study result is p = 10−8, with 17 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 979 cases, 1,709 controls; replicated in 868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls.
The effect Each copy of the C allele carried 1.16 times the odds of Age-related macular degeneration (95% confidence interval 1.10-1.22); p = 2 × 10−8.
How common The C allele had a frequency of about 55% in the people studied.
Where it sits Chromosome 15, band 15q21.3 — inside ALDH1A2.
How common each version is
CT
C 26.2% · T 73.8%
C 25.4% · T 74.6%
C 23.7% · T 76.3%
C 19.5% · T 80.5%
C 49.4% · T 50.6%
C 42.1% · T 57.9%
C 50.0% · T 50.0%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
rs493258 is a single position in the genome, in or near the ALDH1A2 gene. Published research associates it with age-related macular degeneration. 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, Proc Natl Acad Sci U S A 2010, PMID:20385826. 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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Age-related macular degeneration (rs493258). MyGeneLog™. https://www.mygenelog.com/variants/rs493258