DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: rs398122853
rs398122853 		0.882 0.160 X 33211304 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 2003 2017
dbSNP: rs398122853
rs398122853 		0.882 0.160 X 33211304 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs398122853
rs398122853 		0.882 0.160 X 33211304 stop gained C/T snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 3 2009 2017
dbSNP: rs1557300135
rs1557300135 		1.000 0.120 X 33211294 frameshift variant C/- del
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123923
rs398123923 		0.925 0.160 X 33211281 splice donor variant C/A;G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2002 2017
dbSNP: rs398123923
rs398123923 		0.925 0.160 X 33211281 splice donor variant C/A;G snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2006 2014
dbSNP: rs1060502652
rs1060502652 		1.000 0.120 X 33020191 frameshift variant CT/- delins
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs794727272
rs794727272 		1.000 0.040 X 33020154 missense variant A/C;G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs886042604
rs886042604 		1.000 0.120 X 33020138 splice donor variant C/G;T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886042604
rs886042604 		1.000 0.120 X 33020138 splice donor variant C/G;T snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs886042604
rs886042604 		1.000 0.120 X 33020138 splice donor variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs863225016
rs863225016 		1.000 0.120 X 32849821 splice acceptor variant C/A;T snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569533965
rs1569533965 		1.000 0.040 X 32849772 frameshift variant -/C delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1557084128
rs1557084128 		1.000 0.120 X 32849760 frameshift variant -/T delins
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs128626231
rs128626231 		1.000 0.040 X 32849753 missense variant A/C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs128626233
rs128626233 		1.000 0.040 X 32849736 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 1994 2013