Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177468
rs180177468
NLRP3
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.010 GeneticVariation BEFREE In this report we describe a case of severe chronic infantile neurologic, cutaneous, articular (CINCA) syndrome with a novel G307V cryopyrin mutation and all of the characteristic clinical and laboratory features of this autoinflammatory disease. 16802372

2006