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: rs758537946
rs758537946
DSG2
18 31531044 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2011 2013
dbSNP: rs121913006
rs121913006
DSG2
0.925 0.080 18 31519867 missense variant G/A snv 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 10 2006 2017
dbSNP: rs121913008
rs121913008
DSG2
0.925 0.080 18 31519858 missense variant G/A snv 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.710 1.000 9 2006 2013
dbSNP: rs191564916
rs191564916
DSG2
0.925 0.080 18 31524877 missense variant A/G snv 5.2E-04 5.9E-04
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.710 1.000 5 2009 2017
dbSNP: rs397516709
rs397516709
DSG2
0.925 0.080 18 31521245 splice donor variant T/C snv 8.4E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 5 2010 2015
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: rs397514038
rs397514038
DSG2
0.925 0.080 18 31541191 splice acceptor variant A/G snv
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2006 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: rs553299589
rs553299589
DSG2
0.925 0.080 18 31521244 splice donor variant G/A;C;T snv 4.2E-06; 1.3E-05; 4.2E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2013 2017
dbSNP: rs397514038
rs397514038
DSG2
0.925 0.080 18 31541191 splice acceptor variant A/G snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 1 2006 2006
dbSNP: rs121913006
rs121913006
DSG2
0.925 0.080 18 31519867 missense variant G/A snv 4.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 1.000 0 2006 2011
dbSNP: rs121913008
rs121913008
DSG2
0.925 0.080 18 31519858 missense variant G/A snv 7.0E-06
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: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 1.000 0 2006 2017
dbSNP: rs121913013
rs121913013
DSG2
0.925 0.080 18 31519887 missense variant G/A snv 1.9E-03 1.8E-03
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs121913013
rs121913013
DSG2
0.925 0.080 18 31519887 missense variant G/A snv 1.9E-03 1.8E-03
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
dbSNP: rs397516709
rs397516709
DSG2
0.925 0.080 18 31521245 splice donor variant T/C snv 8.4E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs553299589
rs553299589
DSG2
0.925 0.080 18 31521244 splice donor variant G/A;C;T snv 4.2E-06; 1.3E-05; 4.2E-06
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.700 0
dbSNP: rs397516703
rs397516703
DSG2
1.000 0.080 18 31538870 stop gained TG/- delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 4 2007 2011
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