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: rs72651636
rs72651636 		1.000 17 50191868 missense variant C/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 11 1989 2007
dbSNP: rs72653169
rs72653169 		1.000 17 50188920 missense variant C/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.800 1.000 11 1989 2007
dbSNP: rs1114167403
rs1114167403 		1.000 17 50185605 missense variant G/A snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs34940368
rs34940368 		1.000 17 50186425 missense variant G/A;C snv 1.4E-03
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs72651661
rs72651661 		1.000 17 50190825 missense variant C/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs67182491
rs67182491 		1.000 17 50195575 missense 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: 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: 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
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