rs2271450

This variant is located in the CAPN1 gene.

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GWAS Catalog Trait Associations (1)

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

level of epidermal growth factor-like protein 7 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.04

p 3.0e-16

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Autosomal recessive spastic paraplegia type 76; not provided

View on ClinVar →

About CAPN1

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

View all CAPN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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