Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138603088
rs138603088
SAMHD1
T 0.700 GeneticVariation CLINVAR Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. 30275001

2018
dbSNP: rs138603088
rs138603088
SAMHD1
T 0.700 GeneticVariation CLINVAR A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans. 28229507

2017
dbSNP: rs138603088
rs138603088
SAMHD1
T 0.700 GeneticVariation CLINVAR The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome. 27604406

2016
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 26846091

2016
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response. 26903602

2016
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 26182405

2015
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 CausalMutation CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. 25274781

2015
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 GeneticVariation CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145

2014
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. 25343331

2014
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380

2014
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 CausalMutation CLINVAR Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380

2014
dbSNP: rs77103971
rs77103971
RNASEH2A ; HOOK2
T 0.700 GeneticVariation CLINVAR Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. 23592335

2013
dbSNP: rs138603088
rs138603088
SAMHD1
T 0.700 GeneticVariation CLINVAR SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations. 22461318

2012
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs138603088
rs138603088
SAMHD1
T 0.700 GeneticVariation CLINVAR Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 21204240

2011
dbSNP: rs77103971
rs77103971
RNASEH2A ; HOOK2
T 0.700 GeneticVariation CLINVAR Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 21454563

2011
dbSNP: rs138603088
rs138603088
SAMHD1
T 0.700 GeneticVariation CLINVAR Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 20653736

2010
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs77103971
rs77103971
RNASEH2A ; HOOK2
T 0.700 GeneticVariation CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs138603088
rs138603088
SAMHD1
T 0.700 GeneticVariation CLINVAR Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. 19525956

2009
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. 19034401

2009
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 CausalMutation CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 GeneticVariation CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007