rs56702977

This is a intron variant variant in the CAPN3 gene.

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GWAS Catalog Trait Associations (1)

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

circulating fibrinogen levels

de Vries PS et al. “A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.” Human Molecular Genetics 25(2):358-70 (2016)

Allele A

OR —

β 0.008

p 2.0e-9

N 120,246

Meta-analysisLarge GWAS

European

About CAPN3

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]

View all CAPN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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