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: rs373730381
rs373730381
MYBPC3
1.000 0.080 11 47347891 missense variant C/G;T snv 9.3E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs374255707
rs374255707
MYBPC3
1.000 0.080 11 47342914 missense variant C/A;G;T snv 4.1E-06; 4.9E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs375882485
rs375882485
MYBPC3
0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 20 1995 2017
dbSNP: rs376504548
rs376504548
MYBPC3
1.000 0.080 11 47335074 missense variant G/A;T snv 9.8E-05 2.4E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs376736293
rs376736293
MYBPC3
1.000 0.080 11 47341222 missense variant C/T snv 2.0E-04 2.0E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs397515905
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs397516002
rs397516002
MYBPC3
0.925 0.080 11 47333664 missense variant G/A;C;T snv 4.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs397516026
rs397516026
MYBPC3
1.000 0.080 11 47332613 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs397516068
rs397516068
MYBPC3
0.882 0.080 11 47348541 missense variant C/A;G snv 4.1E-06
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: rs397516075
rs397516075
MYBPC3
1.000 0.080 11 47347864 missense variant G/A snv 4.5E-05 7.0E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs531189495
rs531189495
MYBPC3
1.000 0.080 11 47332961 missense variant C/G;T snv 1.2E-05; 8.3E-06 2.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs730880694
rs730880694
MYBPC3
1.000 0.080 11 47342096 missense variant G/A;T snv 4.0E-06
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: rs778623429
rs778623429
MYBPC3
1.000 0.080 11 47341212 missense variant G/A;C snv 1.4E-05
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: rs397516050
rs397516050
MYBPC3
0.925 0.080 11 47350077 missense variant C/T snv 6.5E-05 1.0E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 12 2008 2017
dbSNP: rs375675796
rs375675796
MYBPC3
0.925 0.080 11 47337564 missense variant C/A;G;T snv 4.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 9 2004 2017
dbSNP: rs387907267
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 6 2004 2015
dbSNP: rs727503167
rs727503167
MYBPC3
0.925 0.080 11 47332123 missense variant C/T snv 6.8E-05 1.4E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 5 2003 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: rs147315081
rs147315081
MYBPC3
1.000 0.080 11 47347669 missense variant C/T snv 9.7E-04 4.2E-03
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 4 2011 2017
dbSNP: rs200625851
rs200625851
MYBPC3
0.925 0.080 11 47342734 missense variant C/G;T snv 4.0E-06; 2.2E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 4 2011 2017
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: rs752007810
rs752007810
MYBPC3
1.000 0.080 11 47337493 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 4 2011 2017