Source: ALL

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: rs121909375
rs121909375
MYBPC3
1.000 0.080 11 47351356 missense variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 24 1995 2017
dbSNP: rs397515907
rs397515907
MYBPC3
0.882 0.080 11 47342697 missense variant C/A;T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 21 1995 2017
dbSNP: rs121909376
rs121909376
MYBPC3
0.925 0.080 11 47335104 missense variant T/C;G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs1393559112
rs1393559112
MYBPC3
1.000 0.080 11 47332967 missense variant A/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs1444087775
rs1444087775
MYBPC3
1.000 0.080 11 47348430 missense variant C/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs1460895809
rs1460895809
MYBPC3
1.000 0.080 11 47346242 missense variant A/G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs397516070
rs397516070
MYBPC3
0.882 0.080 11 47348486 missense variant T/G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs730880695
rs730880695
MYBPC3
1.000 0.080 11 47342085 missense variant A/G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs786204338
rs786204338
MYBPC3
1.000 0.080 11 47343021 stop gained C/A;G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs749310275
rs749310275
MYBPC3
1.000 0.080 11 47342930 missense variant G/A;C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 5 1996 2005
dbSNP: rs397516077
rs397516077
MYBPC3
0.925 0.080 11 47347852 splice region variant C/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 4 1997 2003
dbSNP: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 3 1995 2014
dbSNP: rs397515990
rs397515990
MYBPC3
0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 2 2010 2011
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2009 2009
dbSNP: rs397515974
rs397515974
MYBPC3
0.882 0.080 11 47337452 stop gained G/A;C;T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2004 2004
dbSNP: rs397516028
rs397516028
MYBPC3
1.000 0.080 11 47332594 missense variant A/G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2012 2012
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: rs1060499673
rs1060499673
MYBPC3
1.000 0.080 11 47333199 frameshift variant CT/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1114167419
rs1114167419
MYBPC3
1.000 0.080 11 47343261 stop gained T/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs112738974
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1168604846
rs1168604846
MYBPC3
1.000 0.080 11 47342635 missense variant C/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1172145591
rs1172145591
MYBPC3
1.000 0.080 11 47341224 missense variant T/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1338707268
rs1338707268
MYBPC3
1.000 0.080 11 47337561 missense variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1352376969
rs1352376969
MYBPC3
0.882 0.080 11 47341155 missense variant G/A;C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1555120300
rs1555120300
MYBPC3
1.000 0.080 11 47332634 frameshift variant G/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0