MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Hypertrophic obstructive cardiomyopathy ×
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: rs375882485
rs375882485 		0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2010 2018
dbSNP: rs397516005
rs397516005 		0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2015 2019
dbSNP: rs1352376969
rs1352376969 		0.882 0.080 11 47341155 missense variant G/A;C snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1412710023
rs1412710023 		0.925 0.040 11 47343549 missense variant T/A snv 4.1E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs371401403
rs371401403 		0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs397515985
rs397515985 		0.882 0.040 11 47335886 missense variant G/T snv 1.3E-04 2.0E-04
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs573916965
rs573916965 		0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs775404728
rs775404728 		0.851 0.080 11 47337535 missense variant G/A snv 4.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2010 2010