MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
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: rs863224899
rs863224899 		0.925 0.080 11 47337580 splice acceptor variant C/T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.700 0
dbSNP: rs11570113
rs11570113 		1.000 0.040 11 47333605 missense variant G/A;T snv 1.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs193068692
rs193068692 		1.000 0.040 11 47350041 missense variant G/A snv 1.7E-03 4.7E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2856655
rs2856655 		0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs397515985
rs397515985 		0.882 0.040 11 47335886 missense variant G/T snv 1.3E-04 2.0E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2011 2011