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Serum alkaline phosphatase levels

PPP1R3B-DT · rs330080

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, 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 342,535 European ancestry individuals, 6,019 African ancestry individuals, 7,337 South Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0169 lower (95% confidence interval 0.012-0.022); p = 2 × 10−12.

Where it sits Chromosome 8, band 8p23.1 — in an intron of PPP1R3B-DT.

What each result means

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

Questions about rs330080

What is rs330080?

rs330080 is a single position in the genome, in or near the PPP1R3B-DT gene. Published research associates it with serum alkaline phosphatase levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs330080 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 rs330080 come from?

GWAS Catalog, Nature genetics 2021, PMID:33462484. 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 alkaline phosphatase levels (rs330080). MyGeneLog™. https://www.mygenelog.com/variants/rs330080

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