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: rs63750743
rs63750743
TMEM43
0.925 0.080 3 14141665 missense variant C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.770 1.000 6 2008 2019
dbSNP: rs121434420
rs121434420
PKP2
0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.710 1.000 10 2004 2014
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: rs121434421
rs121434421
PKP2
0.925 0.080 12 32802499 stop gained G/A;C snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.710 1.000 4 2004 2015
dbSNP: rs193922674
rs193922674
PKP2
0.925 0.080 12 32802557 splice acceptor variant C/G snv 3.2E-05 2.8E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 30 2004 2017
dbSNP: rs111517471
rs111517471
PKP2
0.925 0.080 12 32796108 splice donor variant C/A;G;T snv 2.8E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 16 1985 2013
dbSNP: rs397516997
rs397516997
PKP2
0.925 0.080 12 32896581 frameshift variant TCTG/- delins 2.8E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 16 2004 2014
dbSNP: rs397517021
rs397517021
PKP2
0.925 0.080 12 32802500 frameshift variant GGTGTG/C;G delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 15 2006 2014
dbSNP: rs727504432
rs727504432
PKP2
0.882 0.120 12 32792712 frameshift variant T/- delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 15 2004 2014
dbSNP: rs727504786
rs727504786
PKP2
1.000 0.080 12 32792670 frameshift variant T/- del
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 15 2004 2014
dbSNP: rs397516986
rs397516986
PKP2
0.925 0.080 12 32868965 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 12 2009 2017
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: rs193922672
rs193922672
PKP2
0.925 0.080 12 32841103 stop gained C/T snv 1.6E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 9 2006 2013
dbSNP: rs372827156
rs372827156
PKP2
0.925 0.080 12 32850907 stop gained G/A snv 1.2E-05 4.9E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 8 2006 2014
dbSNP: rs144601090
rs144601090
PKP2
0.925 0.080 12 32821439 missense variant A/G snv 1.6E-05 1.1E-04
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 6 2006 2012
dbSNP: rs397516989
rs397516989
PKP2
0.925 0.080 12 32850932 frameshift variant -/A delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 6 2006 2018
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: rs794729137
rs794729137
PKP2
0.925 0.080 12 32841073 frameshift variant C/- delins 2.1E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 6 2004 2013
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: 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: 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
dbSNP: rs397516990
rs397516990
PKP2
0.925 0.080 12 32850873 missense variant A/G snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2006 2009
dbSNP: rs397517017
rs397517017
PKP2
1.000 0.080 12 32821382 stop gained G/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 3 2006 2010