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: rs770335717
rs770335717
ACTN2
1.000 0.080 1 236761132 stop gained G/A;T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs587777135
rs587777135
CTNNA3
0.925 0.080 10 65966714 inframe deletion CAA/- delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1400593451
rs1400593451
DES
1.000 0.080 2 219418827 missense variant A/G;T snv 5.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397516694
rs397516694
DES
1.000 0.080 2 219418842 missense variant G/C snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs759320891
rs759320891
DES
1.000 0.080 2 219420915 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397517408
rs397517408
DSC2
1.000 0.080 18 31093617 frameshift variant G/- del
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2010 2016
dbSNP: rs777688726
rs777688726
DSC2
1.000 0.080 18 31082969 missense variant A/G snv 8.0E-06 3.5E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 2 2019 2019
dbSNP: rs397517404
rs397517404
DSC2
0.925 0.080 18 31086694 missense variant G/A;T snv 1.6E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 1 2011 2011
dbSNP: rs397517406
rs397517406
DSC2
1.000 0.080 18 31086672 stop gained G/C;T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 1 2006 2006
dbSNP: rs145476705
rs145476705
DSC2
0.925 0.080 18 31087781 stop gained A/G;T snv 4.0E-06; 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs377272752
rs377272752
DSC2
1.000 0.080 18 31069032 inframe deletion CCT/- delins 5.2E-04
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397517393
rs397517393
DSC2
1.000 0.080 18 31093558 splice donor variant C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
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: 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: 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: 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: 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: 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: 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: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 6 1999 2014
dbSNP: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2006 2015