Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368859219
rs368859219
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0031069
Disease:
Familial Mediterranean Fever
0.010 GeneticVariation BEFREE FMF-associated p.Arg761His allele carried with the loss of function TNFAIP3 mutation by all three HA20 patients may contribute to their autoinflammatory phenotype and could also be responsible for their favourable response to colchicine. 31376265 2020