MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Cardiomyopathy, Dilated ×
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: rs397515947
rs397515947 		1.000 0.040 11 47339376 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 7 1998 2017
dbSNP: rs727503204
rs727503204 		0.882 0.080 11 47343020 splice donor variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 3 2006 2011
dbSNP: rs397516028
rs397516028 		1.000 0.080 11 47332594 missense variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2004 2004
dbSNP: rs397515939
rs397515939 		11 47339758 missense variant G/A;C snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs730880140
rs730880140 		1.000 0.080 11 47333297 missense variant T/C snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs876657704
rs876657704 		11 47337489 frameshift variant C/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0