DisGeNET - a database of gene-disease associations

List of associated variants

Osteogenesis imperfecta, dominant perinatal lethal, C0268358

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
rs1114167414	COL1A2	0.925	0.120	7	94426433	missense variant	G/A	snv			2
rs121912902	COL1A2	0.925	0.120	7	94424363	missense variant	G/A	snv			2
rs72659305	COL1A2	0.925	0.120	7	94425127	missense variant	G/A	snv			2
rs1206388800	COL1A2	1.000	0.120	7	94408342	missense variant	C/T	snv	4.0E-06	2.8E-05	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
rs66999265	COL1A2	1.000	0.120	7	94413111	missense variant	G/A;T	snv			1
rs67422093	COL1A2	1.000	0.120	7	94425999	missense variant	G/A;T	snv			1
rs72656385	COL1A2	1.000	0.120	7	94408789	missense variant	G/A	snv			1
rs72658109	COL1A2	1.000	0.120	7	94410917	missense variant	G/T	snv			1
rs72658114	COL1A2	1.000	0.120	7	94411102	missense variant	G/A	snv			1
rs72658117	COL1A2	1.000	0.120	7	94412077	missense variant	G/T	snv			1
rs72658130	COL1A2	1.000	0.120	7	94413709	missense variant	G/A	snv			1
rs72658136	COL1A2	1.000	0.120	7	94413921	missense variant	G/C	snv			1
rs72658138	COL1A2	1.000	0.120	7	94414240	missense variant	G/T	snv			1
rs72658139	COL1A2	1.000	0.120	7	94415262	missense variant	G/C	snv			1
rs72658141	COL1A2	1.000	0.120	7	94416414	missense variant	G/A;T	snv			1
rs72658145	COL1A2	1.000	0.120	7	94417734	missense variant	G/A;C	snv	4.6E-06		1
rs72658148	COL1A2	1.000	0.120	7	94417770	missense variant	G/A	snv			1
rs72658155	COL1A2	1.000	0.120	7	94418536	missense variant	G/A	snv			1
rs72658161	COL1A2	1.000	0.120	7	94420252	missense variant	G/A	snv			1
rs72658167	COL1A2	1.000	0.120	7	94420401	missense variant	G/A	snv			1
rs72658171	COL1A2	1.000	0.120	7	94420541	missense variant	G/T	snv			1
rs72658174	COL1A2	1.000	0.120	7	94420568	missense variant	G/A	snv			1