COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Osteogenesis imperfecta type IV (disorder) ×
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: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs67879854
rs67879854 		0.790 0.240 17 50190578 missense variant C/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs68114505
rs68114505 		1.000 17 50191814 missense variant C/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72653170
rs72653170 		0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72654795
rs72654795 		0.925 0.120 17 50188565 missense variant C/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72654796
rs72654796 		1.000 17 50188556 missense variant C/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs66490707
rs66490707 		0.790 0.240 17 50195231 splice donor variant C/G;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs66555264
rs66555264 		0.790 0.240 17 50192993 splice donor variant C/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs67364703
rs67364703 		1.000 17 50197948 splice donor variant C/G;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72651618
rs72651618 		1.000 17 50192825 inframe deletion GCC/- del
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0