DisGeNET - a database of gene-disease associations

List of associated variants

Osteogenesis imperfecta, recessive perinatal lethal, C0268360

Source: ALL

Results per page

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
rs1057516036	COL1A2	0.925	0.160	7	94423065	missense variant	G/A	snv			4
rs72656332	COL1A1	0.882	0.120	17	50186895	missense variant	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
rs397514672	COL1A1	1.000	0.120	17	50185866	missense variant	G/A	snv			2
rs66929517	COL1A1	0.925	0.120	17	50190334	missense variant	C/A;G	snv			2
rs72645333	COL1A1	0.925	0.120	17	50196651	missense variant	C/T	snv			2
rs72648333	COL1A1	0.925	0.120	17	50195099	missense variant	C/A	snv			2
rs72648356	COL1A1	0.925	0.120	17	50194365	missense variant	C/T	snv			2
rs72648363	COL1A1	0.925	0.120	17	50194005	missense variant	C/G	snv			2
rs72651646	COL1A1	0.925	0.120	17	50191462	missense variant	C/T	snv			2
rs72651651	COL1A1	0.925	0.120	17	50191408	missense variant	C/G;T	snv			2
rs72651653	COL1A1	0.925	0.120	17	50191390	missense variant	C/A	snv			2
rs72651657	COL1A1	0.925	0.120	17	50190869	missense variant	C/A	snv			2