Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122897
rs398122897
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		G 0.800 CausalMutation CLINVAR

dbSNP: rs398122896
rs398122896
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		A 0.800 CausalMutation CLINVAR

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

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

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

dbSNP: rs398122892
rs398122892
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		T 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: 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: 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: rs1044845711
rs1044845711
ADAR ; CHRNB2
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.720 GeneticVariation UNIPROT

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

dbSNP: rs768943773
rs768943773
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398122898
rs398122898
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		C 0.700 CausalMutation CLINVAR

dbSNP: rs398122822
rs398122822
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs398122822
rs398122822
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387906541
rs387906541
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		C 0.700 CausalMutation CLINVAR

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

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: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		C 0.700 CausalMutation CLINVAR

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

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

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