DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Osteogenesis Imperfecta ×
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: rs965718917
rs965718917 		1.000 0.120 X 31496826 missense variant C/T snv 1.6E-05 9.4E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2011 2011