Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1044845711
rs1044845711
ADAR ; CHRNB2
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.720 GeneticVariation UNIPROT

dbSNP: rs1127311
rs1127311
ADAR ; CHRNB2
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		A 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809

2016
dbSNP: rs1127311
rs1127311
ADAR ; CHRNB2
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		A 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809

2016
dbSNP: rs121912421
rs121912421
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		A 0.710 CausalMutation CLINVAR

dbSNP: rs121912422
rs121912422
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912423
rs121912423
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		A 0.700 CausalMutation CLINVAR

dbSNP: rs144119808
rs144119808
ADAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT

dbSNP: rs145588689
rs145588689
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		C 0.800 CausalMutation CLINVAR

dbSNP: rs145588689
rs145588689
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT

dbSNP: rs145588689
rs145588689
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		C 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs145588689
rs145588689
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs145588689
rs145588689
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 12916015

2003
dbSNP: rs145588689
rs145588689
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: rs145588689
rs145588689
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		C 0.700 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs145588689
rs145588689
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		C 0.700 CausalMutation CLINVAR

dbSNP: rs145588689
rs145588689
ADAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. 24950769

2014
dbSNP: rs145588689
rs145588689
ADAR
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		C 0.700 GeneticVariation CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145

2014
dbSNP: rs1553207540
rs1553207540
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557863734
rs1557863734
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		C 0.700 CausalMutation CLINVAR Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 15724015

2005