Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779944761
rs779944761
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.010 GeneticVariation BEFREE The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway. 25888769 2015