Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1433372015
rs1433372015
STING1
0.010 GeneticVariation BEFREE Since this mutation promotes the upregulation of antiviral type I interferon-stimulated genes (ISGs), we hypothesized that STING N153S knock-in mice may develop more severe autoinflammatory disease in response to a virus challenge. 30463976

2019
dbSNP: rs587777609
rs587777609
STING1
0.010 GeneticVariation BEFREE Patients with this mutation (STING N154S in humans) develop STING-associated vasculopathy with onset in infancy (SAVI), a severe pediatric autoinflammatory disease characterized by pulmonary fibrosis. 30463976

2019
dbSNP: rs587781260
rs587781260
NLRC4
0.010 GeneticVariation BEFREE Unlike the NLRC4-H443P mutant, another constitutively active mutant (NLRC4-V341A) associated with autoinflammatory diseases, but not FCAS, showed neither enhanced interaction with HSC70 nor an increase in inflammasome formation upon exposure to subnormal temperature. 31597739

2019
dbSNP: rs606231460
rs606231460
NLRC4
0.010 GeneticVariation BEFREE Unlike the NLRC4-H443P mutant, another constitutively active mutant (NLRC4-V341A) associated with autoinflammatory diseases, but not FCAS, showed neither enhanced interaction with HSC70 nor an increase in inflammasome formation upon exposure to subnormal temperature. 31597739

2019
dbSNP: rs184429527
rs184429527
SERPINB9 ; LOC101927730
0.010 GeneticVariation BEFREE We here describe an autoinflammatory disease-associated serpinB9 (c.985G>T, A329S) variant, which we discovered in a patient with unknown AID. 26992230

2016
dbSNP: rs397514562
rs397514562
PLCG2
0.010 GeneticVariation BEFREE We previously reported that p.Ser707Tyr, a novel variant in phospholipase Cγ2 (PLCγ2), is the cause of a dominantly inherited autoinflammatory disease, autoinflammation and PLCγ2-associated antibody deficiency and immune dysregulation (APLAID). 25418813

2015
dbSNP: rs4986790
rs4986790
TLR4
0.010 GeneticVariation BEFREE TLR4 functional gene Asp299Gly and Thr399Ile polymorphisms play a role in some autoinflammatory disease susceptibility. 23152086

2013
dbSNP: rs4986791
rs4986791
TLR4
0.010 GeneticVariation BEFREE TLR4 functional gene Asp299Gly and Thr399Ile polymorphisms play a role in some autoinflammatory disease susceptibility. 23152086

2013
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.010 GeneticVariation BEFREE Patients with the autoinflammatory disease Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) who suffer from demyelinating disease have been described, and one of the milder TRAPS mutations (R92Q in the TNFRSF1A gene) has been suggested as a risk factor for multiple sclerosis (MS). 21565411

2011
dbSNP: rs180177468
rs180177468
NLRP3
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