RYR3 · rs2229116
Where this position leads
Condition: Carotid Atherosclerosis in HIV Infection
What the study found
Who was studied 177 European ancestry individuals.
The effect The reported allele is G; the catalogue records no effect size ; p = 3 × 10−8.
How common The G allele had a frequency of about 18% in the people studied.
Where it sits Chromosome 15, band 15q14 — a missense change in RYR3.
What ClinVar records
Classification
Benign for Epileptic encephalopathy; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2026-01-26.
ClinVar record 1166904 NM_001036.6(RYR3):c.2191A>G (p.Ile731Val)
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.
rs2229116 is a single position in the genome, in or near the RYR3 gene. Published research associates it with carotid atherosclerosis in hiv infection. 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 Carotid Atherosclerosis in HIV Infection. 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, AIDS 2010, PMID:20009918. 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.
Carotid atherosclerosis in HIV infection (rs2229116). MyGeneLog™. https://www.mygenelog.com/variants/rs2229116