DisGeNET - a database of gene-disease associations

List of associated variants

Osteogenesis imperfecta type IV (disorder), C0268363

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
rs67507747	COL1A1	0.827	0.160	17	50194032	missense variant	C/A;G;T	snv			5
rs67693970	COL1A1	0.882	0.120	17	50190099	missense variant	C/G;T	snv			3
rs72645328	COL1A1	0.882	0.120	17	50196670	missense variant	C/G;T	snv			3
rs72653131	COL1A1	0.882	0.120	17	50190045	missense variant	C/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
rs67525025	COL1A2	0.882	0.120	7	94408798	missense variant	G/A;T	snv			3
rs72656370	COL1A2	0.882	0.120	7	94406286	missense variant	G/A	snv	4.0E-06		3
rs72658176	COL1A2	0.882	0.120	7	94420604	missense variant	G/A	snv	4.1E-06		3
rs72658177	COL1A2	0.882	0.120	7	94420613	missense variant	G/T	snv			3
rs72659310	COL1A2	0.882	0.120	7	94425664	splice donor variant	G/A	snv			3
rs72659325	COL1A2	0.882	0.120	7	94427008	missense variant	G/C;T	snv			3
rs768171831	COL1A2	0.882	0.120	7	94426011	missense variant	C/T	snv	1.2E-04; 4.0E-06	5.6E-05	3