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
rs67865220	COL1A2	0.851	0.120	7	94409795	missense variant	G/A;C;T	snv			4
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
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
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
rs768171831	COL1A2	0.882	0.120	7	94426011	missense variant	C/T	snv	1.2E-04; 4.0E-06	5.6E-05	3
rs1114167414	COL1A2	0.925	0.120	7	94426433	missense variant	G/A	snv			2
rs1114167415	COL1A2	0.925	0.120	7	94426514	missense variant	G/A;C	snv			2
rs121912905	COL1A2	0.925	0.120	7	94408806	missense variant	G/T	snv			2
rs121912907	COL1A2	0.925	0.120	7	94415263	missense variant	G/T	snv			2
rs1554200371	TENT5A	0.925	0.120	6	81750332	missense variant	T/C	snv			2
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
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
rs72659304	COL1A2	0.925	0.120	7	94425118	missense variant	G/A	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