rs80184311

This is a regulatory region variant variant in the CARD10 gene.

GWAS Catalog Trait Associations (1)

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

inactive pancreatic lipase-related protein 1 measurement

Allele C
OR 0.06
p 2.0e-14
N 47,745
Large GWAS
European

About CARD10

The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]

View all CARD10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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