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: rs1556962271
rs1556962271
0.925 0.120 X 31875197 frameshift variant -/AATG delins
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557058294
rs1557058294
1.000 0.120 X 32823294 splice donor variant C/T snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557396600
rs1557396600
0.925 0.120 X 32518006 splice donor variant A/C snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886039785
rs886039785
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760251358
rs760251358
1.000 0.120 X 31209642 missense variant T/C snv 1.6E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018