COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: 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: rs72654802
rs72654802 		0.882 0.120 17 50188122 missense 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 0.020 1.000 2 2011 2012
dbSNP: rs1260429820
rs1260429820 		1.000 0.120 17 50187885 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 0.010 1.000 1 2006 2006
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: rs66548636
rs66548636 		0.925 0.120 17 50195469 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 0.010 1.000 1 2002 2002
dbSNP: rs66664580
rs66664580 		0.925 0.120 17 50195967 missense variant C/A;T snv 7.0E-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 2016 2016
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: rs67771061
rs67771061 		0.925 0.120 17 50188776 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 0.010 1.000 1 1992 1992
dbSNP: rs72645315
rs72645315 		0.925 0.120 17 50197205 missense 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 0.010 1.000 1 1995 1995
dbSNP: rs72645318
rs72645318 		0.882 0.200 17 50197057 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 0.010 1.000 1 2016 2016
dbSNP: rs72651658
rs72651658 		0.827 0.200 17 50190861 missense variant C/T snv 7.0E-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 2016 2016
dbSNP: rs72654799
rs72654799 		0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-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 2007 2007
dbSNP: rs72656338
rs72656338 		0.925 0.120 17 50186799 missense 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 0.010 1.000 1 2011 2011
dbSNP: rs72656343
rs72656343 		0.882 0.120 17 50186386 stop gained 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 0.010 1.000 1 2019 2019
dbSNP: rs72656351
rs72656351 		1.000 0.120 17 50185576 missense variant C/A;T snv 2.8E-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 2002 2002
dbSNP: rs886440452
rs886440452 		0.925 0.200 17 50189478 missense variant G/A snv 4.0E-06 2.8E-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 2007 2007
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