Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913010
rs121913010
DSG2 ; DSG2-AS1
0.925 0.080 18 31545820 missense variant G/A;C;T snv 2.4E-05; 1.2E-05
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 1.000 0 2006 2017
dbSNP: rs121913010
rs121913010
DSG2 ; DSG2-AS1
0.925 0.080 18 31545820 missense variant G/A;C;T snv 2.4E-05; 1.2E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2006 2009
dbSNP: rs1375081885
rs1375081885
DSG2 ; DSG2-AS1
1.000 0.080 18 31545914 frameshift variant A/- delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs1567933176
rs1567933176
DSG2 ; DSG2-AS1
1.000 0.080 18 31542772 frameshift variant G/- delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs1567934720
rs1567934720
DSG2 ; DSG2-AS1
1.000 0.080 18 31546144 frameshift variant -/GCTA delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs1567934773
rs1567934773
DSG2 ; DSG2-AS1
1.000 0.080 18 31546202 frameshift variant C/- delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2010 2013
dbSNP: rs539821357
rs539821357
DSG2 ; DSG2-AS1
1.000 0.080 18 31546425 stop gained C/A;T snv 6.8E-05; 1.2E-05
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs794728084
rs794728084
DSG2 ; DSG2-AS1
1.000 0.080 18 31546308 frameshift variant G/- delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs1064794709
rs1064794709
DSG2 ; DSG2-AS1
1.000 0.040 18 31546340 frameshift variant T/- delins
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0