Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4149637
rs4149637
TNFRSF1A
0.710 GeneticVariation UNIPROT A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. 10902757

2000
dbSNP: rs104895254
rs104895254
TNFRSF1A
0.700 GeneticVariation UNIPROT A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. 10902757

2000
dbSNP: rs104895219
rs104895219
TNFRSF1A
A 0.840 CausalMutation CLINVAR Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis. 25936627

2016
dbSNP: rs104895219
rs104895219
TNFRSF1A
0.840 GeneticVariation BEFREE Although more than 150 TNFRSF1A mutations have been reported to be associated with TRAPS phenotypes only a few, such as p.Thr79Met (T79M) and cysteine mutations, have been functionally analyzed. 31429073

2019
dbSNP: rs104895238
rs104895238
TNFRSF1A
0.020 GeneticVariation BEFREE Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). 20071450

2010
dbSNP: rs151125290
rs151125290
RELA ; RELA-DT
0.010 GeneticVariation BEFREE Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). 20071450

2010
dbSNP: rs104895222
rs104895222
TNFRSF1A
0.810 GeneticVariation BEFREE Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). 20071450

2010
dbSNP: rs104895233
rs104895233
TNFRSF1A
0.010 GeneticVariation BEFREE Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). 20071450

2010
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.900 GeneticVariation BEFREE Clinical observations have identified a group of MS patients carrying the R92Q mutation who have additional TRAPS</span> symptoms. 22059991

2011
dbSNP: rs104895219
rs104895219
TNFRSF1A
0.840 GeneticVariation BEFREE DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS). 15570662

2004
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.900 GeneticVariation BEFREE Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant. 27990755

2017
dbSNP: rs104895218
rs104895218
TNFRSF1A
0.850 GeneticVariation BEFREE Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "prototype familial Hibernian fever" family did not possess C33Y, present in 9 other affected members. 13130484

2003
dbSNP: rs104895218
rs104895218
TNFRSF1A
0.850 GeneticVariation UNIPROT Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "prototype familial Hibernian fever" family did not possess C33Y, present in 9 other affected members. 13130484

2003
dbSNP: rs104895271
rs104895271
TNFRSF1A
C 0.700 CausalMutation CLINVAR Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis. 23745996

2013
dbSNP: rs104895219
rs104895219
TNFRSF1A
0.840 GeneticVariation BEFREE Genetic evaluation of all members of her family with a TRAPS index patient disclosed the T50M mutation in TNFRSF1A. 16308343

2006
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.900 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895218
rs104895218
TNFRSF1A
0.850 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895219
rs104895219
TNFRSF1A
0.840 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895221
rs104895221
TNFRSF1A
0.810 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895222
rs104895222
TNFRSF1A
0.810 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895228
rs104895228
TNFRSF1A
0.810 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895217
rs104895217
TNFRSF1A
0.800 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895220
rs104895220
TNFRSF1A
0.800 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895223
rs104895223
TNFRSF1A
0.800 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999
dbSNP: rs104895225
rs104895225
TNFRSF1A
0.800 GeneticVariation UNIPROT Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. 10199409

1999