Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1455950524
rs1455950524
DNAH8
0.010 GeneticVariation BEFREE We evaluated role of two amino acid replacements (L1110F) and (V1120I); found to be frequent in genotype 1 FHF-E viruses from India. 24630891

2014
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.900 GeneticVariation BEFREE We describe a case of a 58-year-old patient with TRAPS caused by the low-penetrance R92Q mutation in TNFRSF1A gene. 21869706

2011
dbSNP: rs104895271
rs104895271
TNFRSF1A
C 0.700 CausalMutation CLINVAR We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis. 23322460

2013
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.900 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895218
rs104895218
TNFRSF1A
0.850 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895219
rs104895219
TNFRSF1A
0.840 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895221
rs104895221
TNFRSF1A
0.810 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895222
rs104895222
TNFRSF1A
0.810 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895217
rs104895217
TNFRSF1A
0.800 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895220
rs104895220
TNFRSF1A
0.800 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895223
rs104895223
TNFRSF1A
0.800 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895225
rs104895225
TNFRSF1A
0.800 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs4149637
rs4149637
TNFRSF1A
0.710 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895254
rs104895254
TNFRSF1A
0.700 GeneticVariation UNIPROT Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. 14610673

2004
dbSNP: rs104895271
rs104895271
TNFRSF1A
C 0.700 CausalMutation CLINVAR Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment. 19917181

2010
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.900 GeneticVariation BEFREE To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis. 29256170

2019
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.900 GeneticVariation BEFREE To define the frequency of the R92Q tumor necrosis factor receptor-associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF. 20506103

2010
dbSNP: rs104895228
rs104895228
TNFRSF1A
0.810 GeneticVariation BEFREE TNFRSF1A sequence variants in the TRAPS patients included p.R121Q (R92Q) and p.C99G (C70G); one patient had a rare occurrence of a concurrent p.V726A/-MEFV mutation. 24233262

2014
dbSNP: rs104895218
rs104895218
TNFRSF1A
0.850 GeneticVariation BEFREE TNFR1-associated signaling pathway intermediates were examined in this model, and in PBMCs from C33Y TRAPS patients and healthy controls. 24668260

2014
dbSNP: rs34751757
rs34751757
TNFRSF1A
0.020 GeneticVariation BEFREE This is the first report of a TRAPS patient associated with SLE with a novel TNFRSF1A mutation (T61I). 15280569

2004
dbSNP: rs1487642206
rs1487642206
TNFRSF1A
0.010 GeneticVariation BEFREE These findings suggest that the newly identified G87V mutation is one of the causative mutations of TRAPS. 31429073

2019
dbSNP: rs2770144
rs2770144
TLR4
0.010 GeneticVariation BEFREE These findings suggest that the newly identified G87V mutation is one of the causative mutations of TRAPS. 31429073

2019
dbSNP: rs4149637
rs4149637
TNFRSF1A
0.710 GeneticVariation BEFREE These data suggest that the P46L variant is rather a polymorphism than a TRAPS causative mutation. 15586174

2005
dbSNP: rs1241312324
rs1241312324
NFKB1
0.010 GeneticVariation BEFREE Their peripheral blood mononuclear cells (PBMC) had increased basal NF-kappaB activation compared with healthy controls and also had increased p50 nuclear expression following tumour necrosis factor (TNF) stimulation compared with PBMC from healthy controls, as well as T50M (T79M) and C88R (C117R) patients with TRAPS and patients with rheumatoid arthritis (RA). 18086728

2008
dbSNP: rs772829518
rs772829518
CD40
0.010 GeneticVariation BEFREE Their peripheral blood mononuclear cells (PBMC) had increased basal NF-kappaB activation compared with healthy controls and also had increased p50 nuclear expression following tumour necrosis factor (TNF) stimulation compared with PBMC from healthy controls, as well as T50M (T79M) and C88R (C117R) patients with TRAPS and patients with rheumatoid arthritis (RA). 18086728

2008