Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1390387214
rs1390387214
DSC2
0.700 GeneticVariation UNIPROT Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. 28256248

2017
dbSNP: rs142331975
rs142331975
DSC2
0.700 GeneticVariation UNIPROT Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. 28256248

2017
dbSNP: rs368299411
rs368299411
DSC2
0.700 GeneticVariation UNIPROT Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. 28256248

2017
dbSNP: rs397517404
rs397517404
DSC2
0.700 GeneticVariation UNIPROT Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. 28256248

2017
dbSNP: rs769022411
rs769022411
DSC2
A 0.700 CausalMutation CLINVAR Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 28600387

2017
dbSNP: rs1555639134
rs1555639134
DSC2
C 0.700 CausalMutation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
dbSNP: rs397514042
rs397514042
DSC2
C 0.700 CausalMutation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
dbSNP: rs397514042
rs397514042
DSC2
C 0.700 CausalMutation CLINVAR Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 23863954

2013
dbSNP: rs794728072
rs794728072
DSC2
A 0.700 GeneticVariation CLINVAR Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 23863954

2013
dbSNP: rs794728072
rs794728072
DSC2
A 0.700 GeneticVariation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
dbSNP: rs1390387214
rs1390387214
DSC2
0.700 GeneticVariation UNIPROT Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920

2011
dbSNP: rs142331975
rs142331975
DSC2
0.700 GeneticVariation UNIPROT Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920

2011
dbSNP: rs368299411
rs368299411
DSC2
0.700 GeneticVariation UNIPROT Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920

2011
dbSNP: rs397517404
rs397517404
DSC2
0.700 GeneticVariation UNIPROT Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920

2011
dbSNP: rs1390387214
rs1390387214
DSC2
0.700 GeneticVariation UNIPROT Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
dbSNP: rs142331975
rs142331975
DSC2
0.700 GeneticVariation UNIPROT Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
dbSNP: rs368299411
rs368299411
DSC2
0.700 GeneticVariation UNIPROT Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
dbSNP: rs397517404
rs397517404
DSC2
0.700 GeneticVariation UNIPROT Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
dbSNP: rs397514042
rs397514042
DSC2
C 0.700 CausalMutation CLINVAR Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 18957847

2009
dbSNP: rs794728072
rs794728072
DSC2
A 0.700 GeneticVariation CLINVAR Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 18957847

2009
dbSNP: rs1390387214
rs1390387214
DSC2
0.700 GeneticVariation UNIPROT Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 17033975

2006
dbSNP: rs142331975
rs142331975
DSC2
0.700 GeneticVariation UNIPROT Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 17033975

2006
dbSNP: rs368299411
rs368299411
DSC2
0.700 GeneticVariation UNIPROT Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 17033975

2006
dbSNP: rs397517404
rs397517404
DSC2
0.700 GeneticVariation UNIPROT Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 17033975

2006
dbSNP: rs1060502989
rs1060502989
DSC2
AT 0.700 CausalMutation CLINVAR