PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 ×
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: rs397516784
rs397516784 		0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0