Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs28936680
rs28936680
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation UNIPROT

dbSNP: rs28936680
rs28936680
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		G 0.800 CausalMutation CLINVAR

dbSNP: rs28936681
rs28936681
ADAR ; CHRNB2
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		G 0.800 CausalMutation CLINVAR

dbSNP: rs28936681
rs28936681
ADAR ; CHRNB2
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation UNIPROT

dbSNP: rs398122822
rs398122822
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145

2014
dbSNP: rs398122822
rs398122822
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122822
rs398122822
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122822
rs398122822
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122822
rs398122822
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 15955093

2005
dbSNP: rs398122892
rs398122892
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122892
rs398122892
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122892
rs398122892
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR

dbSNP: rs398122893
rs398122893
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122893
rs398122893
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122893
rs398122893
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR

dbSNP: rs398122894
rs398122894
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		G 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122894
rs398122894
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122894
rs398122894
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		G 0.800 CausalMutation CLINVAR

dbSNP: rs398122895
rs398122895
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		A 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122895
rs398122895
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
dbSNP: rs398122895
rs398122895
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		A 0.800 CausalMutation CLINVAR

dbSNP: rs398122896
rs398122896
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		A 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012