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: rs121964856
rs121964856
0.807 0.120 1 201365297 missense variant C/A;T snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 29 1994 2015
dbSNP: rs397516456
rs397516456
0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 22 1994 2016
dbSNP: rs121964855
rs121964855
0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 21 1994 2013
dbSNP: rs397516457
rs397516457
0.851 0.080 1 201365291 missense variant C/A;T snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1991 2017
dbSNP: rs397516463
rs397516463
0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 19 1994 2014
dbSNP: rs397516484
rs397516484
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 19 1994 2014
dbSNP: rs121964858
rs121964858
0.807 0.120 1 201365244 missense variant A/C;G;T snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 14 1994 2012
dbSNP: rs121964857
rs121964857
0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 13 1994 2012
dbSNP: rs727504245
rs727504245
0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 6 1997 2017
dbSNP: rs727504246
rs727504246
0.827 0.080 1 201363330 missense variant G/A snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 2000 2017
dbSNP: rs863225119
rs863225119
0.882 0.080 1 201359632 missense variant T/A snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs367785431
rs367785431
1.000 0.080 1 201359221 missense variant G/A;T snv 2.5E-05 7.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 14 1994 2012
dbSNP: rs200754249
rs200754249
0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 13 1994 2012
dbSNP: rs45578238
rs45578238
0.882 0.080 1 201361971 inframe deletion CTT/- delins
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 13 2000 2013
dbSNP: rs886039053
rs886039053
1.000 0.080 1 201365666 missense variant A/G snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 13 1994 2012
dbSNP: rs74315379
rs74315379
0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 10 2001 2015
dbSNP: rs397516470
rs397516470
0.851 0.080 1 201363377 inframe deletion CTC/- delins
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 9 1995 2016
dbSNP: rs74315380
rs74315380
0.851 0.080 1 201364366 missense variant G/A;C snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 7 2004 2013
dbSNP: rs397516455
rs397516455
0.851 0.080 1 201365617 missense variant T/G snv 4.0E-06 7.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2003 2017
dbSNP: rs397516471
rs397516471
0.882 0.080 1 201363348 missense variant C/T snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2010 2013
dbSNP: rs727504247
rs727504247
0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
0.851 0.080 1 201359216 stop gained C/T snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2003 2013
dbSNP: rs45586240
rs45586240
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2009 2017
dbSNP: rs727503512
rs727503512
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2012 2013
dbSNP: rs121964860
rs121964860
0.882 0.080 1 201361988 missense variant C/A;G;T snv
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2015 2015