PSKH1 · rs56070533
Where this position leads
Condition: Cholesterol (LDL, HDL and Total)
Strength of the evidence
Its strongest genetic-study result is p = 10−94, with 3 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 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.
The effect Each copy of the A allele shifted the measure 0.02 % higher (95% confidence interval 0.02-0.02); p = 5 × 10−13.
Where it sits Chromosome 16, band 16q22.1 — in an intron of PSKH1.
How common each version is
AG
A 2.7% · G 97.3%
A 3.5% · G 96.5%
A 3.1% · G 96.9%
A 4.7% · G 95.3%
A 0.5% · G 99.5%
A 15.0% · G 85.0%
A 15.2% · G 84.8%
A 15.0% · G 85.0%
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.
rs56070533 is a single position in the genome, in or near the PSKH1 gene. Published research associates it with free cholesterol to total lipids in large ldl percentage. 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, 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.
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Free Cholesterol to Total Lipids in Large LDL percentage (rs56070533). MyGeneLog™. https://www.mygenelog.com/variants/rs56070533