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Free cholesterol levels in chylomicrons and extremely large VLDL

near CITED2 · rs540973884

Where this position leads

Condition: Cholesterol (LDL, HDL and Total)

rs540973884 Condition: Cholesterol (LDL, HDL and Total) Cholesterol (LDL, HDL and Total) Condition rs540973884 rs540973884 near CITED2

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−31, with 46 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.

The effect Each copy of the G allele shifted the measure 0.02 mmol/L higher (95% confidence interval 0.02-0.02); p = 7 × 10−32.

Where it sits Chromosome 6, band 6q24.1 — between genes, 33.9 kb from LINC01625.

How common each version is

GT
Korean KRGDB
G 18.0% · T 82.0%
Japanese ToMMo
G 18.3% · T 81.7%
World 1000 Genomes
G 50.3% · T 49.7%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

G/G Two copies of the version the research linked to Free cholesterol levels in chylomicrons and extremely large VLDL. That is the strongest link of the three results. A link in a study is not a diagnosis.
G/T One copy of the version the research linked to Free cholesterol levels in chylomicrons and extremely large VLDL. That is a smaller link than two copies.
T/T No copy of the version the research linked to Free cholesterol levels in chylomicrons and extremely large VLDL. This is the starting point the study compared everyone against.
Source

Questions about rs540973884

What is rs540973884?

rs540973884 is a single position in the genome, in or near the near CITED2 gene. Published research associates it with free cholesterol levels in chylomicrons and extremely large vldl. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs540973884 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 rs540973884 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 rs540973884 come from?

GWAS Catalog, Nature genetics 2025, PMID:41044249. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Free cholesterol levels in chylomicrons and extremely large VLDL (rs540973884). MyGeneLog™. https://www.mygenelog.com/variants/rs540973884

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