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: 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: rs121913007
rs121913007
DSG2
1.000 0.080 18 31524792 stop gained G/A snv
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs121913011
rs121913011
DSG2
1.000 0.080 18 31524554 missense variant A/G snv 4.0E-06
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: 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: rs1555671441
rs1555671441
DSG2
1.000 0.080 18 31524447 splice acceptor variant G/A snv
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs1568105371
rs1568105371
DSG2
1.000 0.080 18 31521228 frameshift variant TGAGT/- delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs373542380
rs373542380
DSG2
1.000 0.080 18 31521111 missense variant G/A;T snv 1.2E-05; 8.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		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: rs397516712
rs397516712
DSG2
1.000 0.080 18 31524815 stop gained C/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		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: rs730880347
rs730880347
DSG2
1.000 0.080 18 31536264 frameshift variant -/G delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs750176752
rs750176752
DSG2
1.000 0.080 18 31522250 splice donor variant G/A snv 1.2E-05
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs752432726
rs752432726
DSG2
1.000 0.080 18 31524754 missense variant A/C;G snv 8.0E-06; 2.0E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs781532110
rs781532110
DSG2
1.000 0.080 18 31521213 frameshift variant -/T delins 2.1E-05
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs786204291
rs786204291
DSG2
1.000 0.040 18 31522152 missense variant A/C;G snv 4.0E-06; 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs794728086
rs794728086
DSG2
1.000 0.080 18 31538849 stop gained C/T snv 7.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs794728091
rs794728091
DSG2
1.000 0.080 18 31521184 frameshift variant -/T ins 4.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0