SMARCA4 · rs113722226
Where this position leads
Condition: Age-Related Macular Degeneration
Strength of the evidence
Its strongest genetic-study result is p = 10−164, with 19 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 C allele shifted the measure 0.0467 lower (95% confidence interval 0.032-0.061); p = 9 × 10−11.
How common The C allele had a frequency of about 12% in the people studied.
Where it sits Chromosome 19, band 19p13.2 — inside SMARCA4.
How common each version is
CT
C 0.2% · T 99.8%
C 0.2% · T 99.8%
C 0.2% · T 99.8%
C 0.1% · T 100.0%
C 12.2% · T 87.8%
C 10.0% · T 90.0%
C 12.6% · T 87.4%
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.
rs113722226 is a single position in the genome, in or near the SMARCA4 gene. Published research associates it with free cholesterol to cholesterol in small hdl percentage. 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.
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.
Free Cholesterol to Cholesterol in Small HDL percentage (rs113722226). MyGeneLog™. https://www.mygenelog.com/variants/rs113722226