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: rs72645357
rs72645357
COL1A1
0.776 0.240 17 50196163 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.800 1.000 15 1989 2008
dbSNP: rs72651645
rs72651645
COL1A1
0.925 0.160 17 50191463 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.800 1.000 15 1989 2015
dbSNP: rs72653178
rs72653178
COL1A1
0.925 0.120 17 50188619 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.800 1.000 15 1989 2015
dbSNP: rs67865220
rs67865220
COL1A2
0.851 0.120 7 94409795 missense variant G/A;C;T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.800 0
dbSNP: rs66773001
rs66773001
COL1A2
0.882 0.120 7 94410251 missense variant G/A;T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1991 2006
dbSNP: rs66883877
rs66883877
COL1A2
0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1991 2006
dbSNP: rs67641695
rs67641695
COL1A1
1.000 0.120 17 50188592 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1989 2008
dbSNP: rs72645363
rs72645363
COL1A1
1.000 0.120 17 50195931 missense variant C/G snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1989 2008
dbSNP: rs72651658
rs72651658
COL1A1
0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1989 2008
dbSNP: rs72656320
rs72656320
COL1A1
1.000 0.120 17 50187095 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1989 2008
dbSNP: rs72656332
rs72656332
COL1A1
0.882 0.120 17 50186895 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1989 2008
dbSNP: rs72658186
rs72658186
COL1A2
1.000 0.120 7 94421045 missense variant G/A snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1991 2006
dbSNP: rs72658191
rs72658191
COL1A2
1.000 0.120 7 94423011 missense variant G/A snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 1.000 15 1991 2006
dbSNP: rs1800250
rs1800250
COL1A2
1.000 0.120 7 94427801 missense variant A/C snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs66619856
rs66619856
COL1A2
0.882 0.120 7 94410278 missense variant G/A;T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs67693970
rs67693970
COL1A1
0.882 0.120 17 50190099 missense variant C/G;T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72654795
rs72654795
COL1A1
0.925 0.120 17 50188565 missense variant C/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72658118
rs72658118
COL1A2
0.882 0.120 7 94412095 missense variant G/A snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72658126
rs72658126
COL1A2
1.000 0.120 7 94413128 missense variant G/C snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72659304
rs72659304
COL1A2
0.925 0.120 7 94425118 missense variant G/A snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72659312
rs72659312
COL1A2
1.000 0.120 7 94425759 missense variant G/A snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72659316
rs72659316
COL1A2
1.000 0.120 7 94426026 missense variant G/T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72659335
rs72659335
COL1A2
0.882 0.120 7 94427288 missense variant G/A;T snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0
dbSNP: rs72659337
rs72659337
COL1A2
1.000 0.120 7 94427646 missense variant G/C snv
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.700 0