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: 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: 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: 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: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
Cardiovascular Diseases 0.700 1.000 6 2003 2017