Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908152
rs121908152
0.800 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504

2014

dbSNP: rs121908153
rs121908153
0.800 GeneticVariation UNIPROT The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. 24952504

2014

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

2014

dbSNP: rs121908152
rs121908152
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: rs121908152
rs121908152
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: rs121908152
rs121908152
0.800 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: rs121908152
rs121908152
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220

2004

dbSNP: rs121908153
rs121908153
0.800 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: rs121908153
rs121908153
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: rs121908153
rs121908153
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: rs121908153
rs121908153
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220

2004

dbSNP: rs121908154
rs121908154
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220

2004

dbSNP: rs121908154
rs121908154
0.800 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: rs121908154
rs121908154
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
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: rs121908152
rs121908152
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: rs121908152
rs121908152
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: rs121908153
rs121908153
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: rs121908153
rs121908153
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
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
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: rs121908152
rs121908152
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908153
rs121908153
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908154
rs121908154
C 0.800 CausalMutation CLINVAR

dbSNP: rs180177433
rs180177433
0.710 GeneticVariation BEFREE CIAS1 sequencing identified the T436I mutation, previously associated to a clinical phenotype of chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease. 18080732

2008