DisGeNET - a database of gene-disease associations

List of associated variants

Osteogenesis imperfecta, dominant perinatal lethal, C0268358

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
rs72653152	COL1A1	0.925	0.120	17	50189520	missense variant	C/A	snv			2
rs72653154	COL1A1	0.925	0.120	17	50189430	missense variant	C/A	snv			2
rs72653166	COL1A1	0.925	0.120	17	50189009	missense variant	C/A	snv			2
rs72653172	COL1A1	0.925	0.120	17	50188768	missense variant	C/T	snv			2
rs72653178	COL1A1	0.925	0.120	17	50188619	missense variant	C/T	snv			2
rs72656321	COL1A1	0.925	0.120	17	50187094	missense variant	C/A;T	snv			2
rs72656324	COL1A1	0.925	0.120	17	50187050	missense variant	C/A	snv			2
rs72656330	COL1A1	0.925	0.120	17	50186913	missense variant	C/T	snv			2
rs72656331	COL1A1	0.925	0.120	17	50186903	missense variant	C/A	snv			2
rs72659305	COL1A2	0.925	0.120	7	94425127	missense variant	G/A	snv			2
rs116794104	COL1A1	1.000	0.120	17	50195466	missense variant	C/T	snv	1.0E-03	4.2E-03	1
rs1206388800	COL1A2	1.000	0.120	7	94408342	missense variant	C/T	snv	4.0E-06	2.8E-05	1
rs57377812	COL1A1	1.000	0.120	17	50194756	missense variant	C/G;T	snv			1
rs66507857	COL1A2	1.000	0.120	7	94425777	missense variant	G/A;T	snv			1
rs66592844	COL1A2	1.000	0.120	7	94421899	missense variant	G/A;C	snv			1
rs66716547	COL1A2	1.000	0.120	7	94421935	missense variant	G/A;T	snv			1
rs66948146	COL1A1	1.000	0.120	17	50186894	missense variant	C/A	snv			1
rs66999265	COL1A2	1.000	0.120	7	94413111	missense variant	G/A;T	snv			1
rs67067133	COL1A1	1.000	0.120	17	50190062	missense variant	C/A;T	snv			1
rs67422093	COL1A2	1.000	0.120	7	94425999	missense variant	G/A;T	snv			1
rs72648328	COL1A1	1.000	0.120	17	50195267	missense variant	C/A	snv			1
rs72648330	COL1A1	1.000	0.120	17	50195258	missense variant	C/T	snv			1
rs72648366	COL1A1	1.000	0.120	17	50193969	missense variant	C/T	snv			1
rs72651615	COL1A1	1.000	0.120	17	50193011	missense variant	C/T	snv			1
rs72651629	COL1A1	1.000	0.120	17	50192492	missense variant	C/T	snv			1