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: rs397516157
rs397516157
MYH7
0.882 0.080 14 23424893 missense variant A/C;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2003 2017
dbSNP: rs121913642
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2000 2017
dbSNP: rs1060501448
rs1060501448
MYH7
1.000 0.080 14 23425792 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2011 2017
dbSNP: rs1060501443
rs1060501443
MYH7
1.000 0.080 14 23427855 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2011 2017
dbSNP: rs397516269
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 1998 2017
dbSNP: rs1555337794
rs1555337794
MYH7
1.000 0.080 14 23425294 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2017
dbSNP: rs397516166
rs397516166
MYH7
0.925 0.080 14 23424085 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs727503261
rs727503261
MYH7
0.882 0.080 14 23425774 missense variant A/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 10 2003 2015
dbSNP: rs267606911
rs267606911
MYH7
0.882 0.080 14 23428587 missense variant C/A snv 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2005 2015
dbSNP: rs121913632
rs121913632
MYH7
0.882 0.080 14 23425760 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 19 1985 2017
dbSNP: rs121913626
rs121913626
MYH7
0.882 0.080 14 23427723 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 17 1992 2018
dbSNP: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 16 1995 2017
dbSNP: rs121913627
rs121913627
MYH7
0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 15 1992 2014
dbSNP: rs121913624
rs121913624
MYH7
0.851 0.080 14 23429278 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 13 1990 2018
dbSNP: rs3218716
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 10 1999 2014
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2004 2013
dbSNP: rs397516178
rs397516178
MYH7
1.000 0.080 14 23422291 missense variant C/A;G;T snv 1.6E-05; 3.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2008 2017
dbSNP: rs2856897
rs2856897
MYH7
0.925 0.080 14 23424875 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2011 2017
dbSNP: rs397516101
rs397516101
MYH7
0.882 0.080 14 23429004 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 1996 2011
dbSNP: rs1060505018
rs1060505018
MYH7
1.000 0.080 14 23424817 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516142
rs397516142
MYH7
1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516260
rs397516260
MYH7
0.882 0.080 14 23431789 missense variant C/A;T snv 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2017
dbSNP: rs3218713
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 5 1991 2015
dbSNP: rs1224554825
rs1224554825
MYH7
1.000 0.080 14 23425991 missense variant C/A;T snv 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2011 2017
dbSNP: rs397516202
rs397516202
MYH7 ; MIR208B
0.882 0.080 14 23418244 missense variant C/A;T snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2002 2013