COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Osteogenesis imperfecta, recessive perinatal lethal ×
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: rs1555574303
rs1555574303 		0.790 0.240 17 50196172 missense variant C/G snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs397514672
rs397514672 		1.000 0.120 17 50185866 missense variant G/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122835
rs398122835 		1.000 0.120 17 50185779 frameshift variant G/- del
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs66490707
rs66490707 		0.790 0.240 17 50195231 splice donor variant C/G;T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs66527965
rs66527965 		0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs66555264
rs66555264 		0.790 0.240 17 50192993 splice donor variant C/A;T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs66929517
rs66929517 		0.925 0.120 17 50190334 missense variant C/A;G snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs67879854
rs67879854 		0.790 0.240 17 50190578 missense variant C/A;T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72645333
rs72645333 		0.925 0.120 17 50196651 missense variant C/T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72645357
rs72645357 		0.776 0.240 17 50196163 missense variant C/T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72648326
rs72648326 		0.790 0.240 17 50195288 stop gained G/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72648333
rs72648333 		0.925 0.120 17 50195099 missense variant C/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72648356
rs72648356 		0.925 0.120 17 50194365 missense variant C/T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72648363
rs72648363 		0.925 0.120 17 50194005 missense variant C/G snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72651642
rs72651642 		0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72651646
rs72651646 		0.925 0.120 17 50191462 missense variant C/T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72651651
rs72651651 		0.925 0.120 17 50191408 missense variant C/G;T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72651653
rs72651653 		0.925 0.120 17 50191390 missense variant C/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72651657
rs72651657 		0.925 0.120 17 50190869 missense variant C/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72653136
rs72653136 		0.925 0.120 17 50190027 missense variant C/T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72653137
rs72653137 		0.925 0.120 17 50190008 missense variant C/T snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72653143
rs72653143 		0.925 0.120 17 50189867 missense variant C/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72653152
rs72653152 		0.925 0.120 17 50189520 missense variant C/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72653154
rs72653154 		0.925 0.120 17 50189430 missense variant C/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72653166
rs72653166 		0.925 0.120 17 50189009 missense variant C/A snv
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0