rs1348442

This variant is located in the CADPS2 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index, osteoarthritis

Zhang L et al. “A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.” Osteoarthritis and Cartilage 31(6):819-828 (2023)

Allele T

OR —

p 2.0e-13

N 1,633,524

Large GWAS

European

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele T

OR 0.01

p 3.0e-12

N 694,649

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About CADPS2

This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]