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: 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: rs397516074
rs397516074
MYBPC3
0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 35 1995 2017
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: 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 5 2004 2017
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: rs200411226
rs200411226
MYBPC3
0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 3 1998 2011
dbSNP: rs36211723
rs36211723
MYBPC3
0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 3 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 2 1995 2017
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 0 1995 2017
dbSNP: rs199865688
rs199865688
MYBPC3
0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.800 1.000 0 2010 2010
dbSNP: rs199865688
rs199865688
MYBPC3
0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 0 1995 2017
dbSNP: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 0
dbSNP: rs371488302
rs371488302
MYBPC3
0.925 0.080 11 47337792 missense variant C/T snv 4.0E-05 3.5E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 0
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 0 1995 2017
dbSNP: rs397514751
rs397514751
MYBPC3
1.000 11 47332095 missense variant C/A;T snv
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.800 1.000 0 2010 2010
dbSNP: rs397514752
rs397514752
MYBPC3
1.000 0.080 11 47342733 missense variant C/A;T snv 4.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 0 1995 2017
dbSNP: rs397516053
rs397516053
MYBPC3
0.925 0.080 11 47350038 missense variant G/A;T snv 5.8E-06; 5.8E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 0 1995 2017
dbSNP: rs397516005
rs397516005
MYBPC3
0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.760 1.000 0 2002 2019
dbSNP: rs397516074
rs397516074
MYBPC3
0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.720 1.000 32 1998 2017
dbSNP: rs375882485
rs375882485
MYBPC3
0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.720 1.000 7 2003 2018
dbSNP: rs573916965
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.720 1.000 0 2008 2010
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: rs200411226
rs200411226
MYBPC3
0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 22 1998 2017
dbSNP: rs397515912
rs397515912
MYBPC3
0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05
CUI: C1963282
Disease: Wolff-Parkinson-White Syndrome, CTCAE
Wolff-Parkinson-White Syndrome, CTCAE 		0.700 1.000 20 2006 2017
dbSNP: rs397515912
rs397515912
MYBPC3
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 		0.700 1.000 20 2006 2017