COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: 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: rs67707918
rs67707918 		0.925 0.080 7 94410501 missense variant G/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs72656386
rs72656386 		1.000 7 94409323 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: rs72658119
rs72658119 		1.000 7 94412585 missense variant G/C snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs72659310
rs72659310 		0.882 0.120 7 94425664 splice donor 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: rs72659319
rs72659319 		0.763 0.240 7 94426459 missense variant G/A;C snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs72659325
rs72659325 		0.882 0.120 7 94427008 missense variant G/C;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs906553840
rs906553840 		0.882 0.120 7 94409403 missense variant G/A;C snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1114167415
rs1114167415 		0.925 0.120 7 94426514 missense variant G/A;C snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs121912903
rs121912903 		1.000 7 94417796 missense variant G/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs121912907
rs121912907 		0.925 0.120 7 94415263 missense variant G/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs121912912
rs121912912 		1.000 7 94410466 missense variant G/A;C snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs66612022
rs66612022 		0.763 0.240 7 94409768 missense variant G/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs67525025
rs67525025 		0.882 0.120 7 94408798 missense variant G/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs67543427
rs67543427 		0.776 0.240 7 94410457 missense variant G/A;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs67768540
rs67768540 		0.925 0.120 7 94427663 missense variant G/A;C;T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72656370
rs72656370 		0.882 0.120 7 94406286 missense variant G/A snv 4.0E-06
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72656376
rs72656376 		1.000 7 94407856 missense variant G/C snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72656395
rs72656395 		1.000 7 94409760 missense variant G/A snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72658147
rs72658147 		1.000 7 94417761 missense variant G/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72658176
rs72658176 		0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72658177
rs72658177 		0.882 0.120 7 94420613 missense variant G/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72658183
rs72658183 		1.000 7 94421010 missense variant G/T snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs72659304
rs72659304 		0.925 0.120 7 94425118 missense variant G/A snv
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0
dbSNP: rs74315103
rs74315103 		1.000 7 94427630 inframe deletion TCCCCCTGG/- delins
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.700 0