DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Becker Muscular Dystrophy ×
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: 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: 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: 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: 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: 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