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Who was studied 2,758 European ancestry individuals; replicated in 18,544 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.1 higher (95% confidence interval 0.08-0.12); p = 1 × 10−20.
How common The T allele had a frequency of about 39% in the people studied.
Where it sits Chromosome 5, band 5q13.3 — in an intron of HMGCR.
What ClinVar records
Classificationassociation for Low density lipoprotein cholesterol level quantitative trait locus 3; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2008-03-20.
ClinVar record 14903NM_000859.3(HMGCR):c.1368+1176A>T
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.
What each result means
A/ANo copy of the version the research linked to LDL cholesterol. This is the starting point the study compared everyone against.
A/TOne copy of the version the research linked to LDL cholesterol. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to LDL cholesterol. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs12654264 is a single position in the genome, in or near the HMGCR gene. Published research associates it with ldl cholesterol. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs12654264 linked to?
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.
Does having rs12654264 mean I will get this?
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.
Where does the information about rs12654264 come from?
GWAS Catalog, Nature genetics 2008, PMID:18193044. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
1 132227Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon2Apple2China (ByteDance, Huawei, Baidu…)2ByteDance (Doubao)2Others7Total13Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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