PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Arrhythmogenic Right Ventricular Dysplasia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434420
rs121434420 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 10 2004 2014
dbSNP: rs121434421
rs121434421 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 4 2004 2015
dbSNP: rs193922674
rs193922674 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 30 2004 2017
dbSNP: rs111517471
rs111517471 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 16 1985 2013
dbSNP: rs397516997
rs397516997 		0.925 0.080 12 32896581 frameshift variant TCTG/- delins 2.8E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 16 2004 2014
dbSNP: rs397517021
rs397517021 		0.925 0.080 12 32802500 frameshift variant GGTGTG/C;G delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 15 2006 2014
dbSNP: rs727504432
rs727504432 		0.882 0.120 12 32792712 frameshift variant T/- delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 15 2004 2014
dbSNP: rs727504786
rs727504786 		1.000 0.080 12 32792670 frameshift variant T/- del
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 15 2004 2014
dbSNP: rs397516986
rs397516986 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 12 2009 2017
dbSNP: rs193922672
rs193922672 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 9 2006 2013
dbSNP: rs372827156
rs372827156 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 2006 2014
dbSNP: rs144601090
rs144601090 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2006 2012
dbSNP: rs397516989
rs397516989 		0.925 0.080 12 32850932 frameshift variant -/A delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2006 2018
dbSNP: rs794729137
rs794729137 		0.925 0.080 12 32841073 frameshift variant C/- delins 2.1E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2004 2013
dbSNP: rs397516990
rs397516990 		0.925 0.080 12 32850873 missense variant A/G snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2006 2009
dbSNP: rs397517017
rs397517017 		1.000 0.080 12 32821382 stop gained G/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2006 2010
dbSNP: rs786204389
rs786204389 		0.925 0.080 12 32878545 splice acceptor variant T/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2013 2017
dbSNP: rs397516994
rs397516994 		1.000 0.080 12 32850765 splice donor variant C/G snv 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2009 2010
dbSNP: rs766209297
rs766209297 		0.925 0.080 12 32868935 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2009 2010
dbSNP: rs397516993
rs397516993 		1.000 0.080 12 32850772 frameshift variant GTTT/- delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2004 2004
dbSNP: rs397517001
rs397517001 		1.000 0.080 12 32841102 stop gained C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs397517003
rs397517003 		0.925 0.080 12 32841027 splice donor variant C/T snv 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs397517005
rs397517005 		1.000 0.080 12 32824142 frameshift variant G/- del
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs397517010
rs397517010 		0.925 0.080 12 32822616 frameshift variant -/A delins 4.0E-06; 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs397517012
rs397517012 		0.925 0.080 12 32822526 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2004 2004