LDLR · rs2738447
Where this position leads
Condition: Age-Related Macular Degeneration
Strength of the evidence
Its strongest genetic-study result is p = 10−11, 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 A allele shifted the measure 0.0191 lower (95% confidence interval 0.013-0.025); p = 2 × 10−11.
How common The A allele had a frequency of about 41% in the people studied.
Where it sits Chromosome 19, band 19p13.2 — in an intron of LDLR.
What ClinVar records
Classification
Benign for Hypercholesterolemia, familial, 1; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2021-06-10.
ClinVar record 440657 NM_000527.5(LDLR):c.1706-55A>C
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
rs2738447 is a single position in the genome, in or near the LDLR gene. Published research associates it with remnant cholesterol (non-hdl, non-ldl -cholesterol). 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.
Remnant cholesterol (non-HDL, non-LDL -cholesterol) (rs2738447). MyGeneLog™. https://www.mygenelog.com/variants/rs2738447