Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913010
rs121913010
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1064794709
rs1064794709
DSG2 ; DSG2-AS1
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121913010
rs121913010
DSG2 ; DSG2-AS1
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617

2009
dbSNP: rs121913010
rs121913010
DSG2 ; DSG2-AS1
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. 18382419

2008
dbSNP: rs121913010
rs121913010
DSG2 ; DSG2-AS1
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16773573

2006
dbSNP: rs1375081885
rs1375081885
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		C 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013
dbSNP: rs1375081885
rs1375081885
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		C 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041

2011
dbSNP: rs1375081885
rs1375081885
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		C 0.700 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010
dbSNP: rs1375081885
rs1375081885
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567933176
rs1567933176
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		A 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013
dbSNP: rs1567933176
rs1567933176
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		A 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041

2011
dbSNP: rs1567933176
rs1567933176
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		A 0.700 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010
dbSNP: rs1567934720
rs1567934720
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		GTAGC 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013
dbSNP: rs1567934720
rs1567934720
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		GTAGC 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041

2011
dbSNP: rs1567934720
rs1567934720
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		GTAGC 0.700 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010
dbSNP: rs1567934773
rs1567934773
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		T 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013
dbSNP: rs1567934773
rs1567934773
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		T 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041

2011
dbSNP: rs1567934773
rs1567934773
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		T 0.700 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041

2011
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs539821357
rs539821357
DSG2 ; DSG2-AS1
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		A 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013