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: rs1057518930
rs1057518930 		1.000 0.080 17 50197009 splice donor variant C/G snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518930
rs1057518930 		1.000 0.080 17 50197009 splice donor variant C/G snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1057518930
rs1057518930 		1.000 0.080 17 50197009 splice donor variant C/G snv
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		0.700 0
dbSNP: rs1107946
rs1107946 		1.000 0.040 17 50203629 intron variant A/C snv 0.80
CUI: C4015951
Disease: BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 		0.700 0
dbSNP: rs1131692320
rs1131692320 		1.000 0.120 17 50187103 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs11327935
rs11327935 		1.000 0.040 17 50203295 intron variant AA/-;A;AAA delins 0.18
CUI: C4015951
Disease: BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 		0.700 0
dbSNP: rs1135401953
rs1135401953 		1.000 0.120 17 50195284 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 0
dbSNP: rs1228746935
rs1228746935 		1.000 0.120 17 50194813 stop gained G/A;C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1298621011
rs1298621011 		1.000 0.120 17 50196483 splice donor variant C/T snv 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 0
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: rs1555571647
rs1555571647 		1.000 0.120 17 50185936 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 0
dbSNP: rs1555571849
rs1555571849 		1.000 0.120 17 50186807 missense variant T/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555571874
rs1555571874 		1.000 0.120 17 50186913 frameshift variant -/G delins
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555571916
rs1555571916 		1.000 0.120 17 50187051 frameshift variant A/- del
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555571942
rs1555571942 		1.000 0.120 17 50187114 frameshift variant -/G delins
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555572013
rs1555572013 		1.000 0.120 17 50187500 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 0
dbSNP: rs1555572120
rs1555572120 		1.000 0.120 17 50187959 frameshift variant -/G delins
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555572121
rs1555572121 		1.000 0.120 17 50187960 frameshift variant -/TC delins
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		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: rs1555572161
rs1555572161 		1.000 0.120 17 50188112 frameshift variant C/- delins
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555572254
rs1555572254 		17 50188569 frameshift variant G/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1555572254
rs1555572254 		17 50188569 frameshift variant G/- delins
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		0.700 0
dbSNP: rs1555572315
rs1555572315 		17 50188740 splice donor variant A/T snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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: rs1555572456
rs1555572456 		1.000 0.120 17 50189418 frameshift variant GGCCAG/CGCCA delins
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0