rs761056344, PLN;CEP85L

N. diseases: 3
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.
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.020 1.000 2 2015 2018
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2015 2015
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2015 2015