DisGeNET - a database of gene-disease associations

List of shared variants

Osteogenesis imperfecta type IV (disorder), C0268363

Disease: Osteogenesis Imperfecta

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
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
rs67507747	COL1A1	0.827	0.160	17	50194032	missense variant	C/A;G;T	snv			5
rs72645328	COL1A1	0.882	0.120	17	50196670	missense variant	C/G;T	snv			3
rs72658176	COL1A2	0.882	0.120	7	94420604	missense variant	G/A	snv	4.1E-06		3
rs72656338	COL1A1	0.925	0.120	17	50186799	missense variant	C/T	snv			2