PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
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: rs794729138
1.000 0.080 6 118558982 frameshift variant -/TC delins 7.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0