NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Familial cold urticaria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908146
rs121908146
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0343068
Disease:
Familial cold urticaria 		0.010 GeneticVariation BEFREE The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome. 27134254 2016
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0343068
Disease:
Familial cold urticaria 		0.010 GeneticVariation BEFREE The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes. 11992256 2002