rs121913010
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1064794709
|
DSG2;DSG2-AS1
|
Cardiomyopathy, Dilated, 1BB
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1375081885
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516706
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516706
|
DSG2;DSG2-AS1
|
Cardiomyopathies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516706
|
DSG2;DSG2-AS1
|
Cardiomyopathy, Dilated, 1BB
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs919875624
|
DSG2;DSG2-AS1
|
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 |
rs121913010
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
16773573 |
2006 |
rs121913010
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia
|
T |
0.700 |
GeneticVariation |
CLINVAR |
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
16773573 |
2006 |
rs121913010
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
18382419 |
2008 |
rs121913010
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
|
19863551 |
2010 |
rs121913010
|
DSG2;DSG2-AS1
|
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 |
rs121913010
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
20031617 |
2009 |
rs1375081885
|
DSG2;DSG2-AS1
|
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 |
rs1567933176
|
DSG2;DSG2-AS1
|
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 |
rs1567934720
|
DSG2;DSG2-AS1
|
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 |
rs1567934773
|
DSG2;DSG2-AS1
|
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 |
rs397516706
|
DSG2;DSG2-AS1
|
Cardiomyopathy, Dilated
|
A |
0.700 |
CausalMutation |
CLINVAR |
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
|
20864495 |
2010 |
rs539821357
|
DSG2;DSG2-AS1
|
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 |
rs794728084
|
DSG2;DSG2-AS1
|
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 |
rs121913010
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
|
21062920 |
2011 |
rs1375081885
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
C |
0.700 |
CausalMutation |
CLINVAR |
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
|
21397041 |
2011 |
rs1567933176
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
A |
0.700 |
CausalMutation |
CLINVAR |
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
|
21397041 |
2011 |
rs1567934720
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
GTAGC |
0.700 |
CausalMutation |
CLINVAR |
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
|
21397041 |
2011 |
rs1567934773
|
DSG2;DSG2-AS1
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
|
T |
0.700 |
CausalMutation |
CLINVAR |
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
|
21397041 |
2011 |