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: rs1280415176
rs1280415176
1.000 0.120 X 32645113 missense variant A/T snv 1.1E-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: rs128626237
rs128626237
1.000 0.120 X 32699252 missense variant 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: rs1557380616
rs1557380616
0.925 0.120 X 32485053 stop gained 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: rs1557047827
rs1557047827
0.925 0.120 X 32809512 frameshift variant C/- del
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: rs267606771
rs267606771
1.000 0.120 X 32448611 stop gained C/A 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 1 1997 1997
dbSNP: rs779739455
rs779739455
0.925 0.120 X 31968451 splice acceptor variant C/A;G snv 5.5E-06
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: rs398123909
rs398123909
0.882 0.160 X 32472310 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 1.000 1 2013 2013
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: rs1569546198
rs1569546198
1.000 0.120 X 31479104 splice acceptor variant C/G 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: rs373286166
rs373286166
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2007 2016
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: rs749989940
rs749989940
1.000 0.120 X 32545253 missense variant C/T snv 5.5E-06
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1556880354
rs1556880354
0.925 0.120 X 31774193 splice acceptor variant C/T snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 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: rs398124105
rs398124105
0.925 0.120 X 31182849 frameshift variant CATCCAGTCT/- 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: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
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: rs128627256
rs128627256
0.882 0.160 X 31478330 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: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123929
rs398123929
0.882 0.160 X 32468509 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: rs398123935
rs398123935
0.882 0.160 X 32463576 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: rs5030730
rs5030730
0.925 0.160 X 32438372 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: rs759108067
rs759108067
1.000 0.120 X 32411870 missense variant G/A snv 1.4E-04 9.5E-06
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: rs794726993
rs794726993
0.882 0.160 X 32645020 stop gained G/A;C snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs128626236
rs128626236
1.000 0.120 X 32816495 missense variant G/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