rs224222

This variant is located in the MEFV gene.

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GWAS Catalog Trait Associations (1)

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

carboxypeptidase A4 measurement

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 4.0e-13

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

14 submitters2 publications

Familial Mediterranean fever; not specified; not provided; Familial Mediterranean fever, autosomal dominant; Autoinflammatory syndrome; Inborn genetic diseases

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About MEFV

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

View all MEFV variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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