Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs36212066
rs36212066
MYBPC3
0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 2003 2015
dbSNP: rs397516083
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2010 2016
dbSNP: rs397516083
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 5 2010 2016
dbSNP: rs36212066
rs36212066
MYBPC3
0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2003 2014
dbSNP: rs397515893
rs397515893
MYBPC3
0.925 0.080 11 47343158 intron variant C/T snv 1.3E-05; 4.2E-06 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 4 2002 2017
dbSNP: rs397515893
rs397515893
MYBPC3
0.925 0.080 11 47343158 intron variant C/T snv 1.3E-05; 4.2E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2002 2017
dbSNP: rs201078659
rs201078659
MYBPC3
0.925 0.080 11 47346380 intron variant G/A;C;T snv 3.3E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 2 2014 2017
dbSNP: rs201078659
rs201078659
MYBPC3
0.925 0.080 11 47346380 intron variant G/A;C;T snv 3.3E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2015 2017
dbSNP: rs587776699
rs587776699
MYBPC3
0.925 0.080 11 47343281 intron variant C/T snv 2.6E-05 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2008 2008
dbSNP: rs1025692267
rs1025692267
MYBPC3
1.000 0.080 11 47343342 intron variant C/T snv 5.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2019 2019
dbSNP: rs864622197
rs864622197
MYBPC3
0.925 0.080 11 47347065 intron variant C/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2008 2008
dbSNP: rs864622197
rs864622197
MYBPC3
0.925 0.080 11 47347065 intron variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2008 2008
dbSNP: rs36212066
rs36212066
MYBPC3
0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397514444
rs397514444
MYBPC3
1.000 11 47332268 intron variant AGGTAAAGAGAGGGAGGGAAGCCAT/- del
CUI: C2751427
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs397516083
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516083
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs587776699
rs587776699
MYBPC3
0.925 0.080 11 47343281 intron variant C/T snv 2.6E-05 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs886041030
rs886041030
MYBPC3
1.000 0.080 11 47337820 intron variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 36 1990 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 24 1990 2015
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 16 1997 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1997 2017
dbSNP: rs387907267
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 10 2003 2015
dbSNP: rs573916965
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 9 1995 2017
dbSNP: rs387907267
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2009 2015