rs2287798

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GWAS Catalog Trait Associations (1)

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

chymotrypsin-like elastase family member 2A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 4.0e-14
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic variation in human aquaporins and effects on phenotypes of water homeostasis
ReviewMarco D. Sorani et al.(2008)· Human Mutation

This review article examines genetic variation in human aquaporins (AQPs), a family of 13 water and solute transport proteins, and their effects on water homeostasis phenotypes. The authors catalog naturally-occurring variants in AQP genes from published studies and genomic databases (HapMap, Celera, Perlegen), focusing on nonsynonymous mutations. They analyze functional domains critical for AQP function (NPA pore motifs, transmembrane domains, posttranslational modification sites) and use structural analysis to predict effects of uncharacterized variants. The paper identifies multiple disease-associated AQP mutations causing phenotypes including nephrogenic diabetes insipidus (AQP2), cataracts (AQP0/MIP), and Sjögren syndrome (AQP5).

Traits studied:CataractsColton blood groupGIL blood groupGlycerol deficiencyNephrogenic diabetes insipidusObesitySjögren syndromeType 2 diabetesWater homeostasis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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