CRTAP, cartilage associated protein, 10491

N. diseases: 66; N. variants: 15
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: rs1044293062
rs1044293062 		1.000 0.120 3 33114388 missense variant C/T snv 7.7E-06 1.4E-05
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 2010 2010