COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: rs67507747
rs67507747
0.827 0.160 17 50194032 missense variant C/A;G;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.710 1.000 1 2001 2001
dbSNP: rs67815019
rs67815019
0.925 0.120 17 50187041 missense variant C/A;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2007 2016
dbSNP: rs193922139
rs193922139
0.925 0.120 17 50195227 splice region variant C/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs144751329
rs144751329
1.000 0.120 17 50194380 missense variant C/A;T snv 4.0E-06; 2.0E-04
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555572125
rs1555572125
1.000 0.120 17 50187975 frameshift variant T/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555572406
rs1555572406
1.000 0.120 17 50189203 frameshift variant CT/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567751388
rs1567751388
1.000 0.120 17 50185558 frameshift variant C/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567753448
rs1567753448
1.000 0.120 17 50187121 missense variant C/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567761800
rs1567761800
1.000 0.120 17 50196500 missense variant C/G snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567762262
rs1567762262
1.000 0.120 17 50197012 frameshift variant GT/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922137
rs193922137
1.000 0.120 17 50195958 missense variant C/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922138
rs193922138
1.000 0.120 17 50195296 missense variant G/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922140
rs193922140
1.000 0.120 17 50194419 missense variant C/G snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922141
rs193922141
1.000 0.120 17 50194141 frameshift variant T/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922143
rs193922143
1.000 0.120 17 50193003 frameshift variant A/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922144
rs193922144
1.000 0.120 17 50191853 stop gained G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922145
rs193922145
1.000 0.120 17 50191457 stop gained G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922147
rs193922147
1.000 0.120 17 50190381 splice acceptor variant C/A;G snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922148
rs193922148
1.000 0.120 17 50190360 frameshift variant A/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922149
rs193922149
0.925 0.120 17 50190328 frameshift variant G/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922150
rs193922150
1.000 0.120 17 50189878 missense variant C/T snv 2.5E-05 1.1E-04
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922151
rs193922151
0.925 0.120 17 50189521 frameshift variant A/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922152
rs193922152
1.000 0.120 17 50189208 missense variant T/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922154
rs193922154
1.000 0.120 17 50199589 splice acceptor variant CT/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs193922155
rs193922155
1.000 0.120 17 50199329 splice acceptor variant T/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0