rs587777609, STING1

N. diseases: 4
Disease: STING-associated vasculopathy with onset in infancy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
STING-associated vasculopathy with onset in infancy
CUI: C4040879
Disease: STING-associated vasculopathy with onset in infancy
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