DisGeNET - a database of gene-disease associations

List of shared variants

Osteogenesis imperfecta, dominant perinatal lethal, C0268358

Disease: Osteogenesis imperfecta type III (disorder)

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
rs67682641	COL1A1	0.807	0.240	17	50194375	missense variant	C/A;T	snv			6
rs72653131	COL1A1	0.882	0.120	17	50190045	missense variant	C/T	snv			3
rs72656332	COL1A1	0.882	0.120	17	50186895	missense variant	C/T	snv			3
rs1114167414	COL1A2	0.925	0.120	7	94426433	missense variant	G/A	snv			2
rs67445413	COL1A1	0.925	0.120	17	50189876	missense variant	C/A;T	snv			2
rs72653178	COL1A1	0.925	0.120	17	50188619	missense variant	C/T	snv			2