Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs66721653
rs66721653
COL1A1
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 11 1989 2015
dbSNP: rs72648322
rs72648322
COL1A1
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 11 1989 2015
dbSNP: rs72653169
rs72653169
COL1A1
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
COL1A1
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
COL1A1
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
COL1A1
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
COL1A1
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
COL1A1
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: rs66883877
rs66883877
COL1A2
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: rs66501246
rs66501246
COL1A1
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
COL1A1
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: rs67182491
rs67182491
COL1A1
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: rs67525025
rs67525025
COL1A2
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: rs67682641
rs67682641
COL1A1
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: rs67768540
rs67768540
COL1A2
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: rs68114505
rs68114505
COL1A1
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: rs72654795
rs72654795
COL1A1
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
COL1A1
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: rs72656370
rs72656370
COL1A2
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
COL1A2
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
COL1A2
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
COL1A2
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
COL1A2
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
COL1A2
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
COL1A2
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