rs1130335

This is a variant in the ALPP gene that changes a proline to an leucine.

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GWAS Catalog Trait Associations (1)

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

refractive error

Guggenheim JA et al. “Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.” Human Molecular Genetics 31(11):1909-1919 (2022)
Allele T
OR 0.07
p 2.0e-10
N 51,624
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter2 publications

ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM

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About ALPP

The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. One of the main sources of this enzyme is the liver, and thus, it's one of several indicators of liver injury in different clinical conditions. In pregnant women, this protein is primarily expressed in placental and endometrial tissue, however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Aug 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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