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: 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: 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: 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: rs1568098570
rs1568098570
DSG2
1.000 0.080 18 31498297 splice donor variant G/A snv
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 2 2013 2013
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: rs869025388
rs869025388
DSG2
1.000 0.080 18 31524549 missense variant T/A snv 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 2 2010 2011
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: 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: 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: rs121913009
rs121913009
DSG2
1.000 0.080 18 31536298 missense variant G/A;T snv 4.0E-06; 4.0E-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: 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: 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: 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