MYBPC3 · rs10769253
Where this position leads
Condition: Age-Related Macular Degeneration
Strength of the evidence
Its strongest genetic-study result is p = 10−14, with 2 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 0.0737 higher (95% confidence interval 0.052-0.096); p = 3 × 10−11.
How common The A allele had a frequency of about 18% in the people studied.
Where it sits Chromosome 11, band 11p11.2 — in an intron of MYBPC3.
What ClinVar records
Classification
Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-06-14.
ClinVar record 672523 NM_000256.3(MYBPC3):c.1927+215C>T
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.
How common each version is
AG
A 55.9% · G 44.1%
A 55.7% · G 44.3%
A 54.0% · G 46.0%
A 55.3% · G 44.7%
A 26.3% · G 73.7%
A 33.2% · G 66.8%
A 26.7% · G 73.3%
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.
rs10769253 is a single position in the genome, in or near the MYBPC3 gene. Published research associates it with cholesteryl esters to total lipids in very large 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.
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Cholesteryl Esters to Total Lipids in Very Large HDL percentage (rs10769253). MyGeneLog™. https://www.mygenelog.com/variants/rs10769253