Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.810 GeneticVariation UNIPROT Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP. 30842659 2019
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.810 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
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.810 GeneticVariation UNIPROT Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 25401470 2014
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.810 GeneticVariation UNIPROT Activated STING in a vascular and pulmonary syndrome. 25029335 2014
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		C 0.810 CausalMutation CLINVAR
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP. 30842659 2019
dbSNP: rs587777611
rs587777611
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP. 30842659 2019
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		T 0.800 CausalMutation CLINVAR Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes. 28484079 2017
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		T 0.800 CausalMutation CLINVAR Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation). 27613991 2016
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		T 0.800 CausalMutation CLINVAR STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease. 26235147 2015
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		T 0.800 CausalMutation CLINVAR Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 25401470 2014
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		T 0.800 CausalMutation CLINVAR Activated STING in a vascular and pulmonary syndrome. 25029335 2014
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 25401470 2014
dbSNP: rs587777610
rs587777610
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT Activated STING in a vascular and pulmonary syndrome. 25029335 2014
dbSNP: rs587777611
rs587777611
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT Activated STING in a vascular and pulmonary syndrome. 25029335 2014
dbSNP: rs587777611
rs587777611
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 25401470 2014
dbSNP: rs587777611
rs587777611
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		G 0.800 CausalMutation CLINVAR
dbSNP: rs7447927
rs7447927
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		C 0.700 GeneticVariation GWASCAT Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. 25129146 2014
dbSNP: rs1561482476
rs1561482476
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease:
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1433372015
rs1433372015
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C0034069
Disease:
Pulmonary Fibrosis 		0.010 GeneticVariation BEFREE STING N153S mice were highly vulnerable to infection and developed pulmonary fibrosis after infection. 30463976 2019
dbSNP: rs1433372015
rs1433372015
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C3267073
Disease:
Autoinflammatory disease 		0.010 GeneticVariation BEFREE Since this mutation promotes the upregulation of antiviral type I interferon-stimulated genes (ISGs), we hypothesized that STING N153S knock-in mice may develop more severe autoinflammatory disease in response to a virus challenge. 30463976 2019
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
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
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
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
dbSNP: rs587777609
rs587777609
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C0034069
Disease:
Pulmonary Fibrosis 		0.010 GeneticVariation BEFREE STING N153S mice were highly vulnerable to infection and developed pulmonary fibrosis after infection. 30463976 2019