DisGeNET - a database of gene-disease associations

List of shared variants

Osteogenesis imperfecta type III (disorder), C0268362

Disease: Osteogenesis Imperfecta

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
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
rs72651658	COL1A1	0.827	0.200	17	50190861	missense variant	C/T	snv		7.0E-06	5
rs67865220	COL1A2	0.851	0.120	7	94409795	missense variant	G/A;C;T	snv			4
rs72658176	COL1A2	0.882	0.120	7	94420604	missense variant	G/A	snv	4.1E-06		3
rs121912905	COL1A2	0.925	0.120	7	94408806	missense variant	G/T	snv			2