Source: ALL
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: rs121913654
rs121913654 		0.882 0.160 14 23415176 missense variant A/G snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 5 2003 2009
dbSNP: rs28933098
rs28933098 		0.882 0.160 14 23415021 missense variant G/A;T snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 4 2003 2007
dbSNP: rs121913650
rs121913650 		0.925 0.080 14 23415652 missense variant G/A snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1992 2005
dbSNP: rs121913649
rs121913649 		1.000 0.080 14 23413847 missense variant T/A snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2003 2007
dbSNP: rs121913647
rs121913647 		0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2004 2007
dbSNP: rs145734640
rs145734640 		0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2015 2015
dbSNP: rs28933098
rs28933098 		0.882 0.160 14 23415021 missense variant G/A;T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2007 2007
dbSNP: rs397516248
rs397516248 		0.851 0.200 14 23415153 missense variant C/T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 2 2009 2015
dbSNP: rs797044599
rs797044599 		1.000 0.120 14 23417541 missense variant C/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2013 2013
dbSNP: rs797044602
rs797044602 		1.000 0.120 14 23415669 missense variant A/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs369437262
rs369437262 		1.000 0.080 14 23415228 missense variant T/C snv 3.2E-05 6.3E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 27 1992 2017
dbSNP: rs372381770
rs372381770 		0.925 0.080 14 23414101 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 23 1992 2014
dbSNP: rs121913652
rs121913652 		0.882 0.080 14 23414015 missense variant C/T snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1992 2005
dbSNP: rs200939753
rs200939753 		1.000 0.080 14 23415225 missense variant C/T snv 6.8E-05 9.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1992 2005
dbSNP: rs201307101
rs201307101 		0.925 0.080 14 23417295 missense variant C/A;G;T snv 3.0E-04; 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1992 2005
dbSNP: rs201895208
rs201895208 		1.000 0.080 14 23417616 missense variant G/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1992 2005
dbSNP: rs397516222
rs397516222 		1.000 0.080 14 23416975 missense variant T/A snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1992 2005
dbSNP: rs397516241
rs397516241 		1.000 0.080 14 23415252 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1992 2005
dbSNP: rs545585809
rs545585809 		1.000 0.080 14 23415407 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1992 2005
dbSNP: rs45544633
rs45544633 		1.000 0.080 14 23417174 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 11 2004 2015
dbSNP: rs121913650
rs121913650 		0.925 0.080 14 23415652 missense variant G/A snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 2005 2017
dbSNP: rs193922390
rs193922390 		0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 2008 2017
dbSNP: rs193922390
rs193922390 		0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 2005 2017
dbSNP: rs397516207
rs397516207 		0.925 0.080 14 23417597 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 2004 2017
dbSNP: rs45544633
rs45544633 		1.000 0.080 14 23417174 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 2004 2013