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: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0037763
Disease: Spasm
Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057522454
rs1057522454 		1.000 0.040 X 32645107 stop gained C/A;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2011 2017
dbSNP: rs1057524037
rs1057524037 		1.000 0.120 X 31206610 stop gained A/G;T snv 5.5E-06
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: rs1060502615
rs1060502615 		1.000 0.040 X 32454659 splice region variant T/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2006 2011
dbSNP: rs1060502619
rs1060502619 		1.000 0.120 X 31496944 splice acceptor variant CC/TT mnv
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: rs1060502620
rs1060502620 		1.000 0.040 X 31932180 frameshift variant T/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060502621
rs1060502621 		1.000 0.120 X 31627681 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: rs1060502623
rs1060502623 		1.000 0.120 X 32343226 stop gained T/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: rs1060502624
rs1060502624 		1.000 0.120 X 31261000 frameshift variant TTTG/- 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: rs1060502625
rs1060502625 		1.000 0.120 X 31147347 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: rs1060502626
rs1060502626 		1.000 0.040 X 31147274 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1060502627
rs1060502627 		1.000 0.120 X 32518024 stop gained 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 0
dbSNP: rs1060502629
rs1060502629 		1.000 0.040 X 32573796 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2006 2009
dbSNP: rs1060502630
rs1060502630 		1.000 0.120 X 31169589 frameshift variant -/TT 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: rs1060502632
rs1060502632 		1.000 0.120 X 32365108 frameshift variant CTTC/- 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: rs1060502633
rs1060502633 		1.000 0.120 X 31478129 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: rs1060502634
rs1060502634 		1.000 0.120 X 32644963 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: rs1060502635
rs1060502635 		1.000 0.120 X 32545250 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: rs1060502636
rs1060502636 		1.000 0.120 X 32518098 stop gained C/G;T snv 5.5E-06
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: rs1060502637
rs1060502637 		1.000 0.120 X 32411914 splice acceptor variant C/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