COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: rs3736638
rs3736638 		7 94417954 intron variant C/A snv 8.2E-02
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs67865220
rs67865220 		0.851 0.120 7 94409795 missense variant G/A;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 0.800 0
dbSNP: rs121912911
rs121912911 		0.925 0.200 7 94426442 missense variant G/C 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 0.710 1.000 1 1996 1996
dbSNP: rs1554396271
rs1554396271 		0.925 0.120 7 94410899 missense variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 16 1979 2018
dbSNP: rs67865220
rs67865220 		0.851 0.120 7 94409795 missense variant G/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 16 1993 2017
dbSNP: rs67865220
rs67865220 		0.851 0.120 7 94409795 missense variant G/A;C;T snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 16 1993 2017
dbSNP: rs72658127
rs72658127 		1.000 7 94413139 splice region variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 16 1979 2018
dbSNP: rs72658127
rs72658127 		1.000 7 94413139 splice region variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1979 2018
dbSNP: rs1206388800
rs1206388800 		1.000 0.120 7 94408342 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 15 1989 2009
dbSNP: rs66716547
rs66716547 		1.000 0.120 7 94421935 missense variant G/A;T snv
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 15 1989 2009
dbSNP: rs66773001
rs66773001 		0.882 0.120 7 94410251 missense variant G/A;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 1.000 15 1991 2006
dbSNP: rs66883877
rs66883877 		0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05
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 1.000 15 1991 2006
dbSNP: rs66999265
rs66999265 		1.000 0.120 7 94413111 missense variant G/A;T snv
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 15 1989 2009
dbSNP: rs72658186
rs72658186 		1.000 0.120 7 94421045 missense variant G/A 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 1.000 15 1991 2006
dbSNP: rs72658187
rs72658187 		1.000 0.120 7 94421908 missense variant G/T snv
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 15 1989 2009
dbSNP: rs72658188
rs72658188 		1.000 0.120 7 94421918 missense variant G/A snv
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 15 1989 2009
dbSNP: rs72658191
rs72658191 		1.000 0.120 7 94423011 missense variant G/A 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 1.000 15 1991 2006
dbSNP: rs72659310
rs72659310 		0.882 0.120 7 94425664 splice donor variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 11 1984 2018
dbSNP: rs72659310
rs72659310 		0.882 0.120 7 94425664 splice donor 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 11 1984 2018
dbSNP: rs66883877
rs66883877 		0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 10 1988 2006
dbSNP: rs72658118
rs72658118 		0.882 0.120 7 94412095 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 10 1993 2016
dbSNP: rs72658118
rs72658118 		0.882 0.120 7 94412095 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 10 1993 2016
dbSNP: rs72659319
rs72659319 		0.763 0.240 7 94426459 missense variant G/A;C snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 10 1993 2016
dbSNP: rs72659319
rs72659319 		0.763 0.240 7 94426459 missense variant 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 1.000 10 1993 2016
dbSNP: rs66619856
rs66619856 		0.882 0.120 7 94410278 missense variant G/A;T snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 9 1993 2018