DisGeNET - a database of gene-disease associations

List of associated variants

Osteogenesis imperfecta type III (disorder), C0268362

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs72653170	COL1A1	0.752	0.240	17	50188908	missense variant	G/A	snv	8.0E-06		10
rs66612022	COL1A2	0.763	0.240	7	94409768	missense variant	G/A;T	snv			9
rs72659319	COL1A2	0.763	0.240	7	94426459	missense variant	G/A;C	snv			9
rs72645357	COL1A1	0.776	0.240	17	50196163	missense variant	C/T	snv			8
rs67543427	COL1A2	0.776	0.240	7	94410457	missense variant	G/A;T	snv			8
rs1555574303	COL1A1	0.790	0.240	17	50196172	missense variant	C/G	snv			7
rs66490707	COL1A1	0.790	0.240	17	50195231	splice donor variant	C/G;T	snv			7
rs66555264	COL1A1	0.790	0.240	17	50192993	splice donor variant	C/A;T	snv			7
rs67879854	COL1A1	0.790	0.240	17	50190578	missense variant	C/A;T	snv			7
rs72648326	COL1A1	0.790	0.240	17	50195288	stop gained	G/A	snv			7
rs72651642	COL1A1	0.790	0.240	17	50191826	stop gained	G/A	snv		7.0E-06	7
rs67682641	COL1A1	0.807	0.240	17	50194375	missense variant	C/A;T	snv			6
rs72651658	COL1A1	0.827	0.200	17	50190861	missense variant	C/T	snv		7.0E-06	5
rs67865220	COL1A2	0.851	0.120	7	94409795	missense variant	G/A;C;T	snv			4
rs67394386	COL1A1	1.000	0.120	17	50188131	missense variant	C/A;T	snv			3
rs67693970	COL1A1	0.882	0.120	17	50190099	missense variant	C/G;T	snv			3
rs72653131	COL1A1	0.882	0.120	17	50190045	missense variant	C/T	snv			3
rs72656332	COL1A1	0.882	0.120	17	50186895	missense variant	C/T	snv			3
rs66619856	COL1A2	0.882	0.120	7	94410278	missense variant	G/A;T	snv			3
rs66773001	COL1A2	0.882	0.120	7	94410251	missense variant	G/A;T	snv			3
rs66883877	COL1A2	0.882	0.160	7	94419499	missense variant	G/A;C;T	snv	4.0E-06	1.4E-05	3
rs72658118	COL1A2	0.882	0.120	7	94412095	missense variant	G/A	snv			3
rs72658176	COL1A2	0.882	0.120	7	94420604	missense variant	G/A	snv	4.1E-06		3
rs72659335	COL1A2	0.882	0.120	7	94427288	missense variant	G/A;T	snv			3