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Serum alkaline phosphatase levels

HSPG2 · rs41266007

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 0.0686 higher (95% confidence interval 0.053-0.084); p = 4 × 10−18.

Where it sits Chromosome 1, band 1p36.12 — a missense change in HSPG2.

What ClinVar records

Classification Benign for Lethal Kniest-like syndrome, Schwartz-Jampel syndrome, Connective tissue disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 9 submitters), last evaluated 2026-02-03. ClinVar record 295768 NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)

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 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

Questions about rs41266007

What is rs41266007?

rs41266007 is a single position in the genome, in or near the HSPG2 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 rs41266007 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 rs41266007 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 (rs41266007). MyGeneLog™. https://www.mygenelog.com/variants/rs41266007

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