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: rs398123834
rs398123834 		1.000 0.040 X 31178668 splice donor variant C/G;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 1997 1999
dbSNP: rs748838045
rs748838045 		1.000 0.080 X 31178676 missense variant T/C snv 5.5E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1114167437
rs1114167437 		X 31178681 frameshift variant T/- del
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs398123832
rs398123832 		0.882 0.160 X 31178721 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1996 2017
dbSNP: rs398123832
rs398123832 		0.882 0.160 X 31178721 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: rs398123832
rs398123832 		0.882 0.160 X 31178721 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
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
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: rs863224975
rs863224975 		1.000 0.040 X 31178759 frameshift variant T/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2001 2009
dbSNP: rs886043676
rs886043676 		X 31178766 frameshift variant G/- del
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs886043676
rs886043676 		X 31178766 frameshift variant G/- del
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		0.700 0
dbSNP: rs886043676
rs886043676 		X 31178766 frameshift variant G/- del
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs104894787
rs104894787 		0.882 0.160 X 31178784 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
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: rs886042840
rs886042840 		0.925 0.120 X 31178789 inframe deletion TCT/- 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: rs886042840
rs886042840 		0.925 0.120 X 31178789 inframe deletion TCT/- 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: rs398123828
rs398123828 		1.000 0.120 X 31180369 splice donor variant C/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: rs398123827
rs398123827 		1.000 0.120 X 31180423 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 1.000 3 2000 2013
dbSNP: rs104894788
rs104894788 		1.000 X 31180437 missense variant C/T snv
CUI: C4016476
Disease: DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE 		0.700 0
dbSNP: rs756953567
rs756953567 		1.000 0.120 X 31180450 missense variant T/C snv 5.5E-06
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1556040444
rs1556040444 		1.000 0.120 X 31180482 splice acceptor 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 1.000 4 2006 2017
dbSNP: rs886044502
rs886044502 		1.000 0.040 X 31180483 splice acceptor variant T/G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2006 2016
dbSNP: rs863225018
rs863225018 		1.000 0.040 X 31182770 stop gained -/TTAC delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
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