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: rs1010666282
rs1010666282
1.000 0.120 X 32411754 stop gained G/A;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 1 2014 2014
dbSNP: rs1048379601
rs1048379601
X 31773986 missense variant T/C snv 1.9E-05
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1048379601
rs1048379601
X 31773986 missense variant T/C snv 1.9E-05
CUI: C0231528
Disease: Myalgia
Myalgia
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs104894787
rs104894787
0.882 0.160 X 31178784 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 8 1992 2015
dbSNP: rs104894787
rs104894787
0.882 0.160 X 31178784 stop gained G/A 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: rs104894787
rs104894787
0.882 0.160 X 31178784 stop gained G/A 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: rs104894788
rs104894788
1.000 X 31180437 missense variant C/T snv
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
0.700 0
dbSNP: rs104894789
rs104894789
1.000 0.120 X 31182784 stop gained G/A 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: rs104894790
rs104894790
0.925 0.160 X 31178751 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 8 1993 2009
dbSNP: rs104894790
rs104894790
0.925 0.160 X 31178751 stop gained G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs104894797
rs104894797
1.000 0.040 X 31206663 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 9 1998 2010
dbSNP: rs1055371114
rs1055371114
1.000 0.120 X 32484946 stop gained G/A;T snv 2.2E-05
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 1997 2010
dbSNP: rs1057516028
rs1057516028
X 32287680 stop gained G/A snv
Creatine phosphokinase serum increased
0.700 0
dbSNP: rs1057518207
rs1057518207
1.000 0.120 X 32545158 splice donor variant 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 0
dbSNP: rs1057518692
rs1057518692
1.000 0.120 X 32343221 frameshift variant C/- 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: 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: rs1057518866
rs1057518866
X 32343174 stop gained A/C snv
CUI: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0