rs3200254

This is a variant in the ALPL gene that changes a tyrosine to an histidine.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

alkaline phosphatase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.13
p 3.0e-278
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry

blood phosphate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.03
p 2.0e-17
N 325,141
Major Consortium StudyLarge GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.00
p 3.0e-8
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
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ClinVar annotation

Benign★★★☆
17 submitters9 publications

Adult hypophosphatasia; Childhood hypophosphatasia; Hypophosphatasia; Infantile hypophosphatasia; Osteogenesis imperfecta (OI); not specified

View on ClinVar →

About ALPL

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

View all ALPL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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