Gene: ADAR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. 26802932

2016
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. 26802932

2016
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

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

2014
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. 24950769

2014
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. 24950769

2014
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145

2014
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. 23621630

2013
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 24183309

2013
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 24183309

2013
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. 23621630

2013
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 16536805

2006
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 16536805

2006
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470

2004
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470

2004
dbSNP: rs145588689
rs145588689
ADAR
C 0.700 CausalMutation CLINVAR Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 12916015

2003
dbSNP: rs779357448
rs779357448
ADAR
C 0.700 CausalMutation CLINVAR Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 12916015

2003