DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Cardiomyopathy, Familial Idiopathic ×
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: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1368507241
rs1368507241 		1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs397516695
rs397516695 		0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61726467
rs61726467 		0.882 0.160 2 219421553 stop gained G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs767743962
rs767743962 		1.000 0.040 2 219420290 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2018 2018