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Its strongest genetic-study result is p = 10−49, with 9 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 up to 62,166 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.077 s.d. higher (95% confidence interval 0.065-0.089); p = 6 × 10−34.
How common The C allele had a frequency of about 68% in the people studied.
Where it sits Chromosome 1, band 1p31.3 — in an intron of DOCK7.
How common each version is
CT
KoreanKRGDB
C 78.3% · T 21.7%
KoreanKorea4K
C 78.1% · T 21.9%
Japanese ToMMo
C 77.3% · T 22.7%
Vietnamese
C 72.1% · T 27.9%
World gnomAD
C 61.6% · T 38.4%
World 1000 Genomes
C 60.2% · T 39.8%
World TOPMed
C 60.4% · T 39.6%
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
C/CTwo copies of the version the research linked to Triglycerides. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Triglycerides. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Triglycerides. This is the starting point the study compared everyone against.
rs9988450 is a single position in the genome, in or near the ANGPTL3 gene. Published research associates it with triglycerides. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs9988450 linked to?
On MyGeneLog this position is linked to High Triglycerides. The research behind each link, and its sources, are set out on that condition page.
Does having rs9988450 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 rs9988450 come from?
GWAS Catalog, Nat Genet 2015, PMID:25961943. 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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