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Its strongest genetic-study result is p = 10−8, with 1 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 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals; replicated in Up to 319,677 individuals.
The effect
Each copy of the A allele shifted the measure 0.023 mg dl-1 lower (95% confidence interval 0.015-0.031); p = 1 × 10−8.
How common The A allele had a frequency of about 16% in the people studied.
Where it sits Chromosome 22, band 22q12.1 — in an intron of ZNRF3-IT1.
What each result means
A/ATwo copies of the version the research linked to HDL cholesterol. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to HDL cholesterol. That is a smaller link than two copies.
G/GNo copy of the version the research linked to HDL cholesterol. This is the starting point the study compared everyone against.
Nature genetics · 2018 · PMID 30275531 · open access
Questions about rs8142788
What is rs8142788?
rs8142788 is a single position in the genome, in or near the ZNRF3 gene. Published research associates it with hdl 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 rs8142788 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 rs8142788 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 rs8142788 come from?
GWAS Catalog, Nature genetics 2018, PMID:30275531. 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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Quoting this page
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