PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Cardiomyopathy, Familial Idiopathic ×
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: rs761056344
rs761056344 		0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2015 2018
dbSNP: rs111033559
rs111033559 		0.925 0.040 6 118558946 missense variant C/T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2016 2016