rs2741918

This variant is located in the MEFV gene.

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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

Familial Mediterranean fever; not provided; Acute febrile neutrophilic dermatosis; Familial Mediterranean fever, autosomal dominant

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Research that mentions this SNP (1)

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Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis
AssociationN=950Day TG et al.(2008)· Arthritis & Rheumatism

This case-control study investigated the association of autoinflammatory genes (NLRP3, NOD2, MEFV, PSTPIP1) with juvenile idiopathic arthritis (JIA) in 950 UK Caucasian patients and 728 controls. After Bonferroni correction, two SNPs remained significantly associated with psoriatic JIA: MEFV rs224204 (corrected P = 0.025) and NLRP3 rs3806265 (corrected P = 0.04). The findings suggest a shared disease mechanism between hereditary periodic fever syndromes and psoriatic JIA involving abnormal IL-1β production.

Traits studied:Enthesitis-related JIAExtended oligoarticular JIAJuvenile idiopathic arthritisPersistent oligoarticular JIAPsoriatic juvenile idiopathic arthritisRheumatoid factor-negative polyarticular JIARheumatoid factor-positive polyarticular JIASystemic-onset JIAUnclassifiable JIA
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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