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: rs121913654
rs121913654
MYH7 ; MHRT
0.882 0.160 14 23415176 missense variant A/G snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.810 1.000 0 2003 2009
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
0.882 0.160 14 23415021 missense variant G/A;T snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.810 1.000 0 2003 2007
dbSNP: rs121913624
rs121913624
MYH7
0.851 0.080 14 23429278 missense variant C/A;G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 53 1961 2017
dbSNP: rs121913637
rs121913637
MYH7
0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 27 1992 2017
dbSNP: rs3218713
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 21 1991 2017
dbSNP: rs727503261
rs727503261
MYH7
0.882 0.080 14 23425774 missense variant A/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 19 2003 2017
dbSNP: rs371898076
rs371898076
MYH7
0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 15 1992 2017
dbSNP: rs727503260
rs727503260
MYH7
0.851 0.080 14 23425403 missense variant C/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 14 2003 2017
dbSNP: rs121913631
rs121913631
MYH7
0.882 0.080 14 23424107 missense variant G/C snv 1.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 13 1992 2017
dbSNP: rs121913641
rs121913641
MYH7
0.882 0.080 14 23425970 missense variant C/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 13 1992 2017
dbSNP: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 13 1992 2017
dbSNP: rs121913625
rs121913625
MYH7
0.851 0.080 14 23429005 missense variant G/A;C;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 12 1990 2014
dbSNP: rs2754158
rs2754158
MYH7
0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 12 2004 2017
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 11 1992 2017
dbSNP: rs121913630
rs121913630
MYH7
0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 11 1992 2017
dbSNP: rs397516209
rs397516209
MYH7
0.882 0.080 14 23432713 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 11 1992 2017
dbSNP: rs727503278
rs727503278
MYH7
0.882 0.080 14 23432714 missense variant G/A;C;T snv 2.8E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 11 2003 2015
dbSNP: rs121913632
rs121913632
MYH7
0.882 0.080 14 23425760 missense variant C/A;G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 10 1992 2017
dbSNP: rs727503246
rs727503246
MYH7 ; MIR208B
0.882 0.080 14 23418313 missense variant C/T snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 9 2004 2013
dbSNP: rs121913627
rs121913627
MYH7
0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 8 1992 2014
dbSNP: rs3218716
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 8 1975 2017
dbSNP: rs397516161
rs397516161
MYH7
0.882 0.080 14 23424148 missense variant T/A;C snv 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 8 1992 2017
dbSNP: rs267606910
rs267606910
MYH7
0.807 0.080 14 23431589 missense variant C/T snv 8.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 7 1992 2017
dbSNP: rs727504238
rs727504238
MYH7
0.882 0.080 14 23427746 missense variant T/C snv 1.6E-05 2.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 7 2005 2017
dbSNP: rs3218714
rs3218714
MYH7
0.763 0.160 14 23429279 missense variant G/A;C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 6 1992 2017