rs587777609, STING1

N. diseases: 4
Disease: Autoinflammatory disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autoinflammatory disease
CUI: C3267073
Disease: Autoinflammatory disease
0.010 GeneticVariation BEFREE Patients with this mutation (STING N154S in humans) develop STING-associated vasculopathy with onset in infancy (SAVI), a severe pediatric autoinflammatory disease characterized by pulmonary fibrosis. 30463976 2019