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: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 GeneticVariation UNIPROT Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920 2011
dbSNP: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 GeneticVariation UNIPROT Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551 2010
dbSNP: rs121913010
rs121913010
Entrez Id: 1829;100652770
Gene Symbol: DSG2;DSG2-AS1
DSG2;DSG2-AS1
CUI: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 GeneticVariation UNIPROT 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: C1857777
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 GeneticVariation UNIPROT DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16773573 2006
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: 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: 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: 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: 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 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804 2013
dbSNP: rs539821357
rs539821357
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: rs794728084
rs794728084
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: 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 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: 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: 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: rs539821357
rs539821357
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: rs794728084
rs794728084
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: 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: 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: 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