Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 28750028

2017
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 24300241

2014
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 25582466

2014
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010