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
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
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: rs397516784
rs397516784
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
Cardiovascular Diseases 0.700 1.000 5 2006 2013
dbSNP: rs397516784
rs397516784
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.700 1.000 3 2006 2013
dbSNP: rs397516784
rs397516784
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
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: 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
dbSNP: rs761056344
rs761056344
0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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: rs111033559
rs111033559
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
Cardiovascular Diseases 0.800 1.000 5 2003 2012
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
dbSNP: rs111033559
rs111033559
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.700 0
dbSNP: rs754782171
rs754782171
1.000 0.040 6 118558947 missense variant G/A snv 8.0E-06
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
Cardiovascular Diseases 0.700 1.000 5 2003 2012
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.710 0.833 6 2003 2013
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
Cardiovascular Diseases 0.700 1.000 6 2003 2017
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0018801
Disease: Heart failure
Heart failure
Cardiovascular Diseases 0.010 1.000 1 2003 2003
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: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
0.700 0
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.700 0
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
Cardiovascular Diseases 0.700 0