Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894724
rs104894724
0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.730 1.000 17 1997 2017
dbSNP: rs368861241
rs368861241
0.851 0.120 19 55154095 missense variant G/A snv 4.0E-05 7.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.720 1.000 15 1997 2017
dbSNP: rs397516354
rs397516354
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 17 1997 2017
dbSNP: rs397516353
rs397516353
0.882 0.080 19 55154109 missense variant G/A snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 12 2003 2017
dbSNP: rs397516347
rs397516347
0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 11 2003 2017
dbSNP: rs104894729
rs104894729
0.827 0.080 19 55151892 missense variant C/A;G;T snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 10 2003 2015
dbSNP: rs397516349
rs397516349
0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 1997 2014
dbSNP: rs104894727
rs104894727
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 7 2002 2017
dbSNP: rs397516357
rs397516357
0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 7 2003 2017
dbSNP: rs727504285
rs727504285
1.000 0.080 19 55151875 missense variant G/A;C snv 4.0E-06; 4.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 5 2005 2017
dbSNP: rs397516351
rs397516351
0.925 0.080 19 55154045 inframe deletion TTC/- delins
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2003 2017
dbSNP: rs727503504
rs727503504
0.807 0.080 19 55154071 missense variant G/A;C snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2009 2015
dbSNP: rs727503506
rs727503506
1.000 0.080 19 55154743 missense variant C/G snv 8.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2011 2017
dbSNP: rs727504242
rs727504242
0.925 0.080 19 55154082 missense variant G/A snv 8.0E-06 7.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2004 2017
dbSNP: rs727503503
rs727503503
0.827 0.120 19 55154070 missense variant C/T snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2009 2017
dbSNP: rs730881069
rs730881069
1.000 0.080 19 55154172 missense variant C/T snv 4.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2011 2012
dbSNP: rs1568858210
rs1568858210
1.000 0.080 19 55154175 missense variant A/G snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs727503501
rs727503501
1.000 0.080 19 55154053 missense variant C/T snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs104894725
rs104894725
0.882 0.080 19 55151851 missense variant T/C;G snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2001 2003
dbSNP: rs267607127
rs267607127
0.882 0.120 19 55151860 missense variant C/T snv
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2002 2003