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: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.710 1.000 1 2003 2003
dbSNP: rs111033559
rs111033559
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.710 1.000 10 2003 2018
dbSNP: rs397516784
rs397516784
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 1.000 7 2006 2012
dbSNP: rs761056344
rs761056344
0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.010 1.000 1 2015 2015