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
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
rs72651648	COL1A1	1.000	0.120	17	50191436	missense variant	C/T	snv			1
rs72651649	COL1A1	1.000	0.120	17	50191417	missense variant	C/A	snv			1
rs72651652	COL1A1	1.000	0.120	17	50191391	missense variant	C/T	snv			1
rs72651660	COL1A1	1.000	0.120	17	50190834	missense variant	C/T	snv			1
rs72651663	COL1A1	1.000	0.120	17	50190353	missense variant	C/T	snv			1
rs72653134	COL1A1	1.000	0.120	17	50190036	missense variant	C/G	snv			1
rs72653145	COL1A1	1.000	0.120	17	50189723	missense variant	C/T	snv			1
rs72653159	COL1A1	1.000	0.120	17	50189266	missense variant	C/A	snv			1
rs72653167	COL1A1	1.000	0.120	17	50188947	missense variant	C/A	snv			1
rs72656305	COL1A1	1.000	0.120	17	50187982	missense variant	C/G	snv			1