IGF2R · rs3777411
Where this position leads
Condition: Age-Related Macular Degeneration
Strength of the evidence
Its strongest genetic-study result is p = 10−20, with 37 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 0.00304 lower (95% confidence interval 0.0022-0.0039); p = 3 × 10−12.
How common The T allele had a frequency of about 15% in the people studied.
Where it sits Chromosome 6, band 6q25.3 — in an intron of IGF2R.
How common each version is
CT
C 65.3% · T 34.7%
C 64.6% · T 35.4%
C 64.8% · T 35.2%
C 64.2% · T 35.8%
C 54.6% · T 45.4%
C 82.0% · T 18.0%
C 76.4% · T 23.6%
C 81.7% · T 18.3%
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.
rs3777411 is a single position in the genome, in or near the IGF2R gene. Published research associates it with cholesterol in small ldl. 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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Cholesterol in Small LDL (rs3777411). MyGeneLog™. https://www.mygenelog.com/variants/rs3777411