DisGeNET - a database of gene-disease associations

List of associated variants

Lobstein Disease, C0023931

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
rs72645347	COL1A1	0.790	0.280	17	50196337	missense variant	G/A	snv			10
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
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
rs67693970	COL1A1	0.882	0.120	17	50190099	missense variant	C/G;T	snv			3
rs72645318	COL1A1	0.882	0.200	17	50197057	stop gained	G/A	snv			3
rs72645328	COL1A1	0.882	0.120	17	50196670	missense variant	C/G;T	snv			3
rs72654799	COL1A1	0.882	0.200	17	50188541	missense variant	G/A;C	snv	6.4E-05		3
rs72654802	COL1A1	0.882	0.120	17	50188122	missense variant	C/T	snv			3
rs72656343	COL1A1	0.882	0.120	17	50186386	stop gained	C/A;T	snv			3
rs1554395471	COL1A2	0.882	0.120	7	94405197	splice acceptor variant	A/C;G	snv			3
rs1554396271	COL1A2	0.925	0.120	7	94410899	missense variant	G/A;T	snv			3
rs66619856	COL1A2	0.882	0.120	7	94410278	missense variant	G/A;T	snv			3