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Standard

Serum alkaline phosphatase levels

PLCL1 · rs12466968

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, 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 T allele shifted the measure 0.031 higher (95% confidence interval 0.021-0.041); p = 3 × 10−10.

Where it sits Chromosome 2, band 2q33.1 — in an intron of PLCL1.

How common each version is

CT
Japanese ToMMo
C 100.0%
World gnomAD
C 95.5% · T 4.5%
World 1000 Genomes
C 97.9% · T 2.1%
World TOPMed
C 96.0% · T 4.0%

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. No Korean figure for this position yet.

What each result means

C/C No copy of the version the research linked to Serum alkaline phosphatase levels. This is the starting point the study compared everyone against.
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 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.
Source

Quoting this page

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Serum alkaline phosphatase levels (rs12466968). MyGeneLog™. https://www.mygenelog.com/variants/rs12466968

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