GAMT · rs74253480
Where this position leads
Condition: Age-Related Macular Degeneration
What the study found
Who was studied 98,316 European ancestry individuals.
The effect Each copy of the T allele shifted the measure 0.174 higher (95% confidence interval 0.12-0.23); p = 1 × 10−9.
How common The T allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 19, band 19p13.3 — a synonymous change in GAMT.
What ClinVar records
Classification
Benign/Likely benign for Deficiency of guanidinoacetate methyltransferase; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-06-01.
ClinVar record 137437 NM_000156.6(GAMT):c.570+165G>A
What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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.
rs74253480 is a single position in the genome, in or near the GAMT gene. Published research associates it with free cholesterol to cholesteryl esters in small hdl 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.
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 Cholesteryl Esters in Small HDL ratio (rs74253480). MyGeneLog™. https://www.mygenelog.com/variants/rs74253480