AFF1 · rs236995
Where this position leads
Condition: Age-Related Macular Degeneration
Strength of the evidence
Its strongest genetic-study result is p = 10−14, with 3 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 G allele shifted the measure 0.00138 higher (95% confidence interval 0.001-0.0017); p = 8 × 10−15.
How common The G allele had a frequency of about 39% in the people studied.
Where it sits Chromosome 4, band 4q21.3 — in an intron of AFF1.
How common each version is
CG
C 55.8% · G 44.2%
C 56.2% · G 43.8%
C 55.1% · G 44.9%
C 51.7% · G 48.3%
C 53.2% · G 46.8%
C 57.5% · G 42.5%
C 55.0% · G 45.0%
C 58.8% · G 41.2%
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.
rs236995 is a single position in the genome, in or near the AFF1 gene. Published research associates it with free cholesterol to cholesteryl esters in small vldl 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 Small VLDL ratio (rs236995). MyGeneLog™. https://www.mygenelog.com/variants/rs236995