Gene: NLRP3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908146
rs121908146
NLRP3
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
NLRP3
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