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: rs66721653
rs66721653 		1.000 17 50195665 missense variant C/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.800 1.000 12 1989 2015
dbSNP: rs72648322
rs72648322 		1.000 17 50195330 missense variant C/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.800 1.000 12 1989 2015
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: rs67507747
rs67507747 		0.827 0.160 17 50194032 missense variant C/A;G;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 11 1989 2007
dbSNP: rs72645321
rs72645321 		0.925 0.120 17 50197045 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: rs72645365
rs72645365 		0.925 0.120 17 50195656 missense variant C/A snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 11 1989 2007
dbSNP: rs72648353
rs72648353 		1.000 17 50194384 missense variant C/A snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 11 1989 2007
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: rs1114167402
rs1114167402 		0.925 0.120 17 50186507 missense variant C/A;T snv 4.0E-06
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
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: rs67368147
rs67368147 		0.925 0.120 17 50191805 missense variant C/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs67693970
rs67693970 		0.882 0.120 17 50190099 missense variant C/G;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs72645357
rs72645357 		0.776 0.240 17 50196163 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: rs72651642
rs72651642 		0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06
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: rs72653131
rs72653131 		0.882 0.120 17 50190045 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: rs72656338
rs72656338 		0.925 0.120 17 50186799 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: rs1555574303
rs1555574303 		0.790 0.240 17 50196172 missense variant C/G 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: rs66501246
rs66501246 		0.925 0.120 17 50195441 missense variant C/G;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs66527965
rs66527965 		0.763 0.240 17 50193038 missense variant C/A;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: 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