COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Lobstein Disease ×
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: rs67682641
rs67682641 		0.807 0.240 17 50194375 missense variant C/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 7 1992 2016
dbSNP: rs72645366
rs72645366 		1.000 0.120 17 50195641 stop gained G/A;C snv 4.4E-05
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 7 1998 2015
dbSNP: rs72648337
rs72648337 		1.000 0.120 17 50194840 intron variant C/T snv 7.0E-06
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 7 1998 2017
dbSNP: rs72667029
rs72667029 		1.000 0.120 17 50197992 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 7 1993 2015
dbSNP: rs67815019
rs67815019 		0.925 0.120 17 50187041 missense variant C/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 2007 2017
dbSNP: rs1328384458
rs1328384458 		1.000 0.120 17 50194626 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs1555574151
rs1555574151 		1.000 0.120 17 50195619 missense variant C/G snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2016
dbSNP: rs1555574177
rs1555574177 		1.000 0.120 17 50195666 splice acceptor variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1994 2016
dbSNP: rs1567753329
rs1567753329 		1.000 0.120 17 50187059 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs1567753699
rs1567753699 		1.000 0.120 17 50187518 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs1567763007
rs1567763007 		1.000 0.120 17 50197749 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs67543897
rs67543897 		1.000 0.120 17 50191491 splice acceptor variant C/G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1994 2011
dbSNP: rs72645328
rs72645328 		0.882 0.120 17 50196670 missense variant C/G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs72645347
rs72645347 		0.790 0.280 17 50196337 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 2000 2017
dbSNP: rs72648326
rs72648326 		0.790 0.240 17 50195288 stop gained G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1996 2016
dbSNP: rs72651658
rs72651658 		0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2016
dbSNP: rs72653140
rs72653140 		1.000 0.120 17 50189912 missense variant C/G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2016
dbSNP: rs72653147
rs72653147 		1.000 0.120 17 50189702 stop gained G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 2004 2016
dbSNP: rs72653170
rs72653170 		0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 2005 2014
dbSNP: rs1555572239
rs1555572239 		1.000 0.120 17 50188529 splice donor variant C/G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 1994 2012
dbSNP: rs1555573288
rs1555573288 		1.000 0.120 17 50192529 splice acceptor variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 1994 2015
dbSNP: rs1567756567
rs1567756567 		1.000 0.120 17 50190597 splice acceptor variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 1994 2015
dbSNP: rs72645318
rs72645318 		0.882 0.200 17 50197057 stop gained G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2004 2016
dbSNP: rs72651642
rs72651642 		0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 1996 2017
dbSNP: rs72651644
rs72651644 		1.000 0.120 17 50191786 splice donor variant A/C;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 1994 2012