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Serum lipase activity

ABO · rs8176693

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−30, with 33 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 3,966 European ancestry individuals; replicated in 1,444 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.139 higher (95% confidence interval 0.12-0.16); p = 1 × 10−30.

How common The T allele had a frequency of about 10% in the people studied.

Where it sits Chromosome 9, band 9q34.2 — in an intron of ABO.

What each result means

C/C No copy of the version the research linked to Serum lipase activity. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Serum lipase activity. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Serum lipase activity. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs8176693

What is rs8176693?

rs8176693 is a single position in the genome, in or near the ABO gene. Published research associates it with serum lipase activity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs8176693 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 rs8176693 come from?

GWAS Catalog, Gut 2014, PMID:25028398. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Serum lipase activity (rs8176693). MyGeneLog™. https://www.mygenelog.com/variants/rs8176693

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