MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Hypertrophic 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: rs397516005
rs397516005 		0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.760 1.000 6 2002 2019
dbSNP: rs397516074
rs397516074 		0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.720 1.000 33 1998 2017
dbSNP: rs375882485
rs375882485 		0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.720 1.000 8 2003 2018
dbSNP: rs573916965
rs573916965 		0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.720 1.000 2 2008 2010
dbSNP: rs200411226
rs200411226 		0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 22 1998 2017
dbSNP: rs397515912
rs397515912 		0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 20 2006 2017
dbSNP: rs397515905
rs397515905 		0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 18 1998 2017
dbSNP: rs121909374
rs121909374 		0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 16 1997 2017
dbSNP: rs397515937
rs397515937 		0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 12 1995 2014
dbSNP: rs397515963
rs397515963 		0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 11 1998 2015
dbSNP: rs397516000
rs397516000 		0.882 0.080 11 47333682 missense variant C/G;T snv 2.4E-05; 4.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 11 2005 2017
dbSNP: rs376395543
rs376395543 		0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 10 2004 2016
dbSNP: rs387907267
rs387907267 		0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 10 2003 2015
dbSNP: rs2856655
rs2856655 		0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 2003 2016
dbSNP: rs397515947
rs397515947 		1.000 0.040 11 47339376 frameshift variant G/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1998 2017
dbSNP: rs397515990
rs397515990 		0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1998 2014
dbSNP: rs193922384
rs193922384 		0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1995 2014
dbSNP: rs36212066
rs36212066 		0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 2003 2015
dbSNP: rs397515991
rs397515991 		0.925 0.080 11 47335041 splice donor variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1997 2017
dbSNP: rs397516020
rs397516020 		0.925 0.080 11 47332813 splice donor variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1997 2017
dbSNP: rs36211723
rs36211723 		0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 7 2004 2017
dbSNP: rs397516070
rs397516070 		0.882 0.080 11 47348486 missense variant T/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 7 2003 2017
dbSNP: rs397516073
rs397516073 		0.925 0.080 11 47347856 splice donor variant C/G;T snv 2.9E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 7 1997 2004
dbSNP: rs727503185
rs727503185 		1.000 0.040 11 47337420 missense variant C/T snv 4.1E-06 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 7 2008 2017
dbSNP: rs111683277
rs111683277 		0.925 0.080 11 47333556 splice donor variant C/G;T snv 4.2E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 2010 2017