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: 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: rs1385794215
rs1385794215 		1.000 0.120 X 31147289 stop gained G/A;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 1.000 3 1998 2011
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: rs878854366
rs878854366 		1.000 0.120 X 31169486 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 1.000 1 2016 2016
dbSNP: rs863224977
rs863224977 		1.000 0.040 X 31169492 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs398123839
rs398123839 		1.000 0.040 X 31169542 frameshift variant A/- del
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 1992 2004
dbSNP: rs886043375
rs886043375 		0.925 0.120 X 31169543 frameshift variant G/-;GG delins
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: rs886043375
rs886043375 		0.925 0.120 X 31169543 frameshift variant G/-;GG 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: rs863224976
rs863224976 		1.000 0.040 X 31169584 stop gained A/C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2005 2005
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: rs1556028034
rs1556028034 		1.000 0.120 X 31172375 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: rs1489694587
rs1489694587 		0.882 0.120 X 31172385 missense variant A/C snv
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs1489694587
rs1489694587 		0.882 0.120 X 31172385 missense variant A/C snv
CUI: C1368019
Disease: Paget Disease
Paget Disease 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs1489694587
rs1489694587 		0.882 0.120 X 31172385 missense variant A/C snv
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1201177282
rs1201177282 		X 31172390 missense variant T/C snv 5.5E-06 9.4E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		Eye Diseases 0.700 0
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
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: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
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: rs1556035795
rs1556035795 		1.000 0.120 X 31177956 frameshift variant A/- 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: rs1556035817
rs1556035817 		1.000 0.120 X 31177964 splice acceptor variant ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- delins
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