Gene: NLRP3 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908146
rs121908146
NLRP3
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908147
rs121908147
NLRP3
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908148
rs121908148
NLRP3
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908150
rs121908150
NLRP3
T 0.800 CausalMutation CLINVAR

dbSNP: rs28937896
rs28937896
NLRP3
C 0.800 CausalMutation CLINVAR

dbSNP: rs28937896
rs28937896
NLRP3
0.800 GeneticVariation UNIPROT

dbSNP: rs180177431
rs180177431
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs180177478
rs180177478
NLRP3
0.700 GeneticVariation UNIPROT

dbSNP: rs121908146
rs121908146
NLRP3
0.800 GeneticVariation UNIPROT A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. 17284928

2007
dbSNP: rs121908147
rs121908147
NLRP3
0.800 GeneticVariation UNIPROT A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. 17284928

2007
dbSNP: rs121908148
rs121908148
NLRP3
0.800 GeneticVariation UNIPROT A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. 17284928

2007
dbSNP: rs121908150
rs121908150
NLRP3
0.800 GeneticVariation UNIPROT A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. 17284928

2007
dbSNP: rs145268073
rs145268073
NLRP3
0.700 GeneticVariation UNIPROT A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. 17284928

2007
dbSNP: rs121908146
rs121908146
NLRP3
0.800 GeneticVariation UNIPROT Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. 12355493

2002
dbSNP: rs121908147
rs121908147
NLRP3
0.800 GeneticVariation UNIPROT Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. 12355493

2002
dbSNP: rs121908148
rs121908148
NLRP3
0.800 GeneticVariation UNIPROT Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. 12355493

2002
dbSNP: rs121908150
rs121908150
NLRP3
0.800 GeneticVariation UNIPROT Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. 12355493

2002
dbSNP: rs145268073
rs145268073
NLRP3
0.700 GeneticVariation UNIPROT Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. 12355493

2002
dbSNP: rs121908146
rs121908146
NLRP3
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: rs121908147
rs121908147
NLRP3
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: rs121908148
rs121908148
NLRP3
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: rs121908150
rs121908150
NLRP3
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: rs145268073
rs145268073
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: rs121908146
rs121908146
NLRP3
0.800 GeneticVariation UNIPROT Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 12522564

2003
dbSNP: rs121908147
rs121908147
NLRP3
0.800 GeneticVariation UNIPROT Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 12522564

2003