Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4149637
rs4149637
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.710 GeneticVariation BEFREE These data suggest that the P46L variant is rather a polymorphism than a TRAPS causative mutation. 15586174 2005
dbSNP: rs4149637
rs4149637
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
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: rs4149637
rs4149637
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.710 GeneticVariation UNIPROT Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. 13130484 2003
dbSNP: rs4149637
rs4149637
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.710 GeneticVariation UNIPROT The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. 11443543 2001
dbSNP: rs4149637
rs4149637
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
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: rs4149637
rs4149637
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.710 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