DSG2-AS1, DSG2 antisense RNA 1, 100652770

N. diseases: 5; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs919875624
rs919875624
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		0.010 GeneticVariation BEFREE One germline missense variant leading to a non-conservative amino acid change (c. 2810 C > A, Thr 937 Asn) was found in a familial gastric cancer patient with a diffuse type tumour.No somatic mutations were identified. 16025435 2005
dbSNP: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1064794709
rs1064794709
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C2752072
Disease:
Cardiomyopathy, Dilated, 1BB 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C0349788
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C0349788
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16773573 2006
dbSNP: rs1375081885
rs1375081885
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1375081885
rs1375081885
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		C 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041 2011
dbSNP: rs1567933176
rs1567933176
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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: rs1567933176
rs1567933176
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		A 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041 2011
dbSNP: rs1567934720
rs1567934720
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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: rs1567934773
rs1567934773
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
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: rs397516706
rs397516706
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C0007193
Disease:
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
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041 2011
dbSNP: rs397516706
rs397516706
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397516706
rs397516706
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397516706
rs397516706
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C2752072
Disease:
Cardiomyopathy, Dilated, 1BB 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397516706
rs397516706
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C0007193
Disease:
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