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Serum alkaline phosphatase levels

ALPL · rs121918010

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars. Its strongest genetic-study result is p = 10−185, 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 118,886 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 1.04 lower (95% confidence interval 0.97-1.11); p = 6 × 10−186.

How common The C allele had a frequency of about 0% in the people studied.

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

What ClinVar records

Classification Pathogenic/Likely pathogenic for Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia, ALPL-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 18 submitters), last evaluated 2026-08-25. ClinVar record 13673 NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)

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

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 rs121918010

What is rs121918010?

rs121918010 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 rs121918010 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 rs121918010 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. 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 (rs121918010). MyGeneLog™. https://www.mygenelog.com/variants/rs121918010

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