SERPINA1 · rs17580
Where this position leads
Condition: Cholesterol (LDL, HDL and Total)
What the study found
Who was studied 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals.
The effect Each copy of the T allele shifted the measure 0.073 lower; p = 9 × 10−11.
Where it sits Chromosome 14, band 14q32.13 — a missense change in SERPINA1.
What ClinVar records
Classification
Pathogenic/Pathogenic, low penetrance; other for PI S, Alpha-1-antitrypsin deficiency, Chronic obstructive pulmonary disease, Cystic fibrosis, Inborn genetic diseases and 11 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 37 submitters), last evaluated 2026-08-25.
ClinVar record 17969 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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.
rs17580 is a single position in the genome, in or near the SERPINA1 gene. Published research associates it with low density lipoprotein cholesterol levels. 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 Cholesterol (LDL, HDL and Total). 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, Nat Genet 2018, PMID:29507422. 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.
Low density lipoprotein cholesterol levels (rs17580). MyGeneLog™. https://www.mygenelog.com/variants/rs17580