ABCG8 · rs4953023
Where this position leads
Condition: Cholesterol (LDL, HDL and Total)
Strength of the evidence
Its strongest genetic-study result is p = 10−32, with 5 associations in the GWAS Catalog.
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 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 G allele shifted the measure 0.101 higher; p = 3 × 10−32.
Where it sits Chromosome 2, band 2p21 — in an intron of ABCG8.
How common each version is
AG
A 1.0% · G 99.0%
A 1.1% · G 98.9%
A 1.4% · G 98.6%
A 0.8% · G 99.2%
A 3.2% · G 96.8%
A 6.9% · G 93.1%
A 6.6% · G 93.4%
A 7.1% · G 92.8%
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.
rs4953023 is a single position in the genome, in or near the ABCG8 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.
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
Low density lipoprotein cholesterol levels (rs4953023). MyGeneLog™. https://www.mygenelog.com/variants/rs4953023