DisGeNET - a database of gene-disease associations

List of shared variants

Osteogenesis Imperfecta, C0029434

Disease: Osteogenesis imperfecta, dominant perinatal lethal

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
rs67507747	COL1A1	0.827	0.160	17	50194032	missense variant	C/A;G;T	snv			5
rs72654802	COL1A1	0.882	0.120	17	50188122	missense variant	C/T	snv			3
rs72656343	COL1A1	0.882	0.120	17	50186386	stop gained	C/A;T	snv			3
rs66548636	COL1A1	0.925	0.120	17	50195469	missense variant	C/A;G;T	snv			2
rs67771061	COL1A1	0.925	0.120	17	50188776	missense variant	C/A;G;T	snv			2
rs72645315	COL1A1	0.925	0.120	17	50197205	missense variant	C/T	snv			2
rs72659305	COL1A2	0.925	0.120	7	94425127	missense variant	G/A	snv			2