MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Left Ventricular Hypertrophy ×
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: rs201278114
rs201278114 		0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs397516037
rs397516037 		0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs397516005
rs397516005 		0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 1.000 4 2015 2019
dbSNP: rs387907267
rs387907267 		0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009