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Serum alkaline phosphatase levels

ALPL · rs149344982

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−1311, with 5 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 A allele shifted the measure 0.785 lower (95% confidence interval 0.77-0.8).

Where it sits Chromosome 1, band 1p36.12 — a missense change in ALPL.

What ClinVar records

Classification Benign/Likely benign for Hypophosphatasia, Infantile hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia, Osteogenesis imperfecta; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 22 submitters), last evaluated 2026-03-01. ClinVar record 197679 NM_000478.6(ALPL):c.455G>A (p.Arg152His)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A 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.
A/G One copy of the version the research linked to Serum alkaline phosphatase levels. That is a smaller link than two copies.
G/G 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 rs149344982

What is rs149344982?

rs149344982 is a single position in the genome, in or near the ALPL 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 rs149344982 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 rs149344982 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 (rs149344982). MyGeneLog™. https://www.mygenelog.com/variants/rs149344982

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