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
rs768171831	COL1A2	0.882	0.120	7	94426011	missense variant	C/T	snv	1.2E-04; 4.0E-06	5.6E-05	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
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
rs121912911	COL1A2	0.925	0.200	7	94426442	missense variant	G/C	snv			2
rs72659304	COL1A2	0.925	0.120	7	94425118	missense variant	G/A	snv			2
rs1554200371	TENT5A	0.925	0.120	6	81750332	missense variant	T/C	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
rs1131692320	COL1A1	1.000	0.120	17	50187103	missense variant	C/T	snv			1
rs67641695	COL1A1	1.000	0.120	17	50188592	missense variant	C/T	snv			1
rs72645320	COL1A1	1.000	0.120	17	50197053	missense variant	C/T	snv			1
rs72645363	COL1A1	1.000	0.120	17	50195931	missense variant	C/G	snv			1
rs72656320	COL1A1	1.000	0.120	17	50187095	missense variant	C/T	snv			1
rs72656353	COL1A1	1.000	0.120	17	50185506	missense variant	A/G	snv			1
rs1114167412	COL1A2	1.000	0.120	7	94410492	missense variant	G/C	snv			1