Source: CLINVAR

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: rs72653170
rs72653170
COL1A1
0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.850 1.000 0 2005 2014
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 1 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 1 1989 2015
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 1 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 1 1989 2015
dbSNP: rs72645331
rs72645331
COL1A1
1.000 0.120 17 50196661 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.800 1.000 0 1988 2014
dbSNP: rs72645341
rs72645341
COL1A1
1.000 0.120 17 50196525 stop gained C/A;T snv 2.0E-05 1.4E-05
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.800 1.000 0 1988 2014
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 0 1989 2008
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 0 1989 2007
dbSNP: rs72654802
rs72654802
COL1A1
0.882 0.120 17 50188122 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.710 1.000 14 1992 2017
dbSNP: rs67507747
rs67507747
COL1A1
0.827 0.160 17 50194032 missense variant C/A;G;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.710 1.000 0 2001 2001
dbSNP: rs1555573789
rs1555573789
COL1A1
17 50194591 frameshift variant AT/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1957 2017
dbSNP: rs1555575085
rs1555575085
COL1A1
1.000 17 50199309 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1957 2017
dbSNP: rs1555575085
rs1555575085
COL1A1
1.000 17 50199309 missense variant C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1957 2017
dbSNP: rs67507747
rs67507747
COL1A1
0.827 0.160 17 50194032 missense variant C/A;G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 12 1993 2017
dbSNP: rs67693970
rs67693970
COL1A1
0.882 0.120 17 50190099 missense variant C/G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 11 1993 2016
dbSNP: rs72645321
rs72645321
COL1A1
0.925 0.120 17 50197045 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 11 1993 2015
dbSNP: rs66490707
rs66490707
COL1A1
0.790 0.240 17 50195231 splice donor variant C/G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 10 1994 2017
dbSNP: rs1555572640
rs1555572640
COL1A1
1.000 0.120 17 50190026 missense variant C/G snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 8 1988 2016
dbSNP: rs66555264
rs66555264
COL1A1
0.790 0.240 17 50192993 splice donor variant C/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 8 1993 2015
dbSNP: rs72645357
rs72645357
COL1A1
0.776 0.240 17 50196163 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 8 1991 2015
dbSNP: rs72645368
rs72645368
COL1A1
1.000 0.120 17 50195611 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 8 1993 2015
dbSNP: rs72667031
rs72667031
COL1A1
0.925 0.120 17 50197983 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 8 1993 2009
dbSNP: rs67163049
rs67163049
COL1A1
1.000 0.120 17 50197234 splice acceptor variant C/A;G;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 7 1994 2016
dbSNP: rs67682641
rs67682641
COL1A1
0.807 0.240 17 50194375 missense variant C/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 7 1992 2016