LDLR · rs138294113
Where this position leads
Condition: Peripheral Artery Disease
What the study found
Who was studied 24,009 European ancestry cases, 150,983 European ancestry controls, 5,373 African ancestry cases, 42,485 African ancestry controls, 1,925 Hispanic cases, 18,285 Hispanic controls; replicated in 5,117 European ancestry cases, 389,291 European ancestry controls.
The effect Each copy of the C allele carried 1.09 times the odds of Peripheral artery disease (95% confidence interval 1.06-1.11); p = 1 × 10−10.
How common The C allele had a frequency of about 88% in the people studied.
Where it sits Chromosome 19, band 19p13.2 — between genes, 1.6 kb from SMARCA4.
rs138294113 is a single position in the genome, in or near the LDLR gene. Published research associates it with peripheral artery disease. 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 Peripheral Artery Disease. 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, GWAS Catalog n.d., PMID:31285632. 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.
Peripheral artery disease (rs138294113). MyGeneLog™. https://www.mygenelog.com/variants/rs138294113