Gene: NLRP3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908154
rs121908154
NLRP3
0.800 GeneticVariation UNIPROT Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. 15334500

2004
dbSNP: rs121908154
rs121908154
NLRP3
0.800 GeneticVariation UNIPROT De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. 12483741

2002
dbSNP: rs121908154
rs121908154
NLRP3
0.800 GeneticVariation UNIPROT Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 14630794

2004
dbSNP: rs121908154
rs121908154
NLRP3
0.800 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504

2014
dbSNP: rs121908154
rs121908154
NLRP3
0.800 GeneticVariation UNIPROT Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 12032915

2002
dbSNP: rs180177433
rs180177433
NLRP3
0.710 GeneticVariation UNIPROT

dbSNP: rs180177438
rs180177438
NLRP3
0.710 GeneticVariation UNIPROT

dbSNP: rs151344629
rs151344629
NLRP3
0.700 GeneticVariation UNIPROT Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 14630794

2004
dbSNP: rs151344629
rs151344629
NLRP3
0.700 GeneticVariation UNIPROT Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220

2004
dbSNP: rs151344629
rs151344629
NLRP3
0.700 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504

2014
dbSNP: rs151344629
rs151344629
NLRP3
0.700 GeneticVariation UNIPROT Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 12032915

2002
dbSNP: rs151344629
rs151344629
NLRP3
0.700 GeneticVariation UNIPROT A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. 15231984

2004
dbSNP: rs151344629
rs151344629
NLRP3
0.700 GeneticVariation UNIPROT De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. 12483741

2002
dbSNP: rs151344629
rs151344629
NLRP3
0.700 GeneticVariation UNIPROT Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. 15334500

2004
dbSNP: rs180177432
rs180177432
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177434
rs180177434
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177435
rs180177435
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177436
rs180177436
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177439
rs180177439
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177442
rs180177442
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177444
rs180177444
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177445
rs180177445
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177446
rs180177446
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177447
rs180177447
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177449
rs180177449
NLRP3
0.700 GeneticVariation UNIPROT