rs121434420, PKP2

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
136 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.710 1.000 10 2004 2014
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
71 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.700 1.000 6 2004 2014
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.700 1.000 3 2008 2014
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2012 2012
Paroxysmal familial ventricular fibrillation
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
5 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2016 2016