rs1187636039, EPHA3

N. diseases: 5
Disease: Familial cold urticaria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial cold urticaria
CUI: C0343068
Disease: Familial cold urticaria
0.010 GeneticVariation BEFREE This study was undertaken to characterize NLRP12 mutations in patients with autoinflammatory syndromes, particularly a novel missense mutation, p.D294E, affecting a protein sequence crucial for ATP binding, which was identified in a Caucasian family with familial cold-induced autoinflammatory syndrome in some family members. 21360512 2011