Source: ALL

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: rs794729098
rs794729098
PKP2
0.925 0.080 12 32796212 missense variant A/G snv 4.0E-06
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.800 1.000 6 2011 2017
dbSNP: rs1060501186
rs1060501186
PKP2
1.000 0.080 12 32822594 missense variant G/A snv
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.800 1.000 3 2013 2017
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: 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: rs193922674
rs193922674
PKP2
0.925 0.080 12 32802557 splice acceptor variant C/G snv 3.2E-05 2.8E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 26 2004 2016
dbSNP: rs111517471
rs111517471
PKP2
0.925 0.080 12 32796108 splice donor variant C/A;G;T snv 2.8E-05
CUI: C4703449
Disease: Aborted sudden cardiac death
Aborted sudden cardiac death 		0.700 1.000 17 2004 2013
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: rs727504432
rs727504432
PKP2
0.882 0.120 12 32792712 frameshift variant T/- delins
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 10 2004 2014
dbSNP: rs764817683
rs764817683
PKP2
12 32821488 frameshift variant G/- delins
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		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: rs372827156
rs372827156
PKP2
0.925 0.080 12 32850907 stop gained G/A snv 1.2E-05 4.9E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 8 2006 2014
dbSNP: rs397516997
rs397516997
PKP2
0.925 0.080 12 32896581 frameshift variant TCTG/- delins 2.8E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 8 2004 2013
dbSNP: rs111517471
rs111517471
PKP2
0.925 0.080 12 32796108 splice donor variant C/A;G;T snv 2.8E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 7 2004 2013
dbSNP: rs397517021
rs397517021
PKP2
0.925 0.080 12 32802500 frameshift variant GGTGTG/C;G delins
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 7 2006 2017
dbSNP: rs794729137
rs794729137
PKP2
0.925 0.080 12 32841073 frameshift variant C/- delins 2.1E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 7 2004 2014
dbSNP: rs121434420
rs121434420
PKP2
0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 6 2004 2014
dbSNP: rs139139859
rs139139859
PKP2
1.000 0.080 12 32878375 missense variant T/C snv 1.2E-03 9.8E-04
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 6 2004 2012
dbSNP: rs1426480515
rs1426480515
PKP2
1.000 0.080 12 32821483 missense variant C/A snv
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 1.000 6 2004 2012