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
rs72645357	COL1A1	0.776	0.240	17	50196163	missense variant	C/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
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
rs66523073	COL1A1	0.925	0.120	17	50188777	missense variant	C/T	snv			2
rs67368147	COL1A1	0.925	0.120	17	50191805	missense variant	C/A;T	snv			2
rs67445413	COL1A1	0.925	0.120	17	50189876	missense variant	C/A;T	snv			2
rs72651645	COL1A1	0.925	0.160	17	50191463	missense variant	C/T	snv			2
rs72653178	COL1A1	0.925	0.120	17	50188619	missense variant	C/T	snv			2
rs72654795	COL1A1	0.925	0.120	17	50188565	missense variant	C/T	snv			2
rs72667031	COL1A1	0.925	0.120	17	50197983	missense variant	C/A	snv			2
rs1114167388	COL1A1	1.000	0.120	17	50191840	missense variant	C/G	snv			1
rs1114167390	COL1A1	1.000	0.120	17	50191382	splice donor variant	C/T	snv			1
rs1114167409	COL1A1	1.000	0.120	17	50201444	inframe deletion	TTGGCC/-	delins			1