DisGeNET - a database of gene-disease associations

List of associated variants

Osteogenesis imperfecta, dominant perinatal lethal, C0268358

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	Num. diseases
rs67682641	COL1A1	0.807	0.240	17	50194375	missense variant	C/A;T	snv	6
rs67507747	COL1A1	0.827	0.160	17	50194032	missense variant	C/A;G;T	snv	5
rs72653131	COL1A1	0.882	0.120	17	50190045	missense variant	C/T	snv	3
rs72654802	COL1A1	0.882	0.120	17	50188122	missense variant	C/T	snv	3
rs72656332	COL1A1	0.882	0.120	17	50186895	missense variant	C/T	snv	3
rs72656343	COL1A1	0.882	0.120	17	50186386	stop gained	C/A;T	snv	3
rs66501246	COL1A1	0.925	0.120	17	50195441	missense variant	C/G;T	snv	2
rs66548636	COL1A1	0.925	0.120	17	50195469	missense variant	C/A;G;T	snv	2
rs66929517	COL1A1	0.925	0.120	17	50190334	missense variant	C/A;G	snv	2
rs67445413	COL1A1	0.925	0.120	17	50189876	missense variant	C/A;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
rs72645333	COL1A1	0.925	0.120	17	50196651	missense variant	C/T	snv	2
rs72648333	COL1A1	0.925	0.120	17	50195099	missense variant	C/A	snv	2
rs72648356	COL1A1	0.925	0.120	17	50194365	missense variant	C/T	snv	2
rs72648363	COL1A1	0.925	0.120	17	50194005	missense variant	C/G	snv	2
rs72651646	COL1A1	0.925	0.120	17	50191462	missense variant	C/T	snv	2
rs72651651	COL1A1	0.925	0.120	17	50191408	missense variant	C/G;T	snv	2
rs72651653	COL1A1	0.925	0.120	17	50191390	missense variant	C/A	snv	2
rs72651657	COL1A1	0.925	0.120	17	50190869	missense variant	C/A	snv	2
rs72653136	COL1A1	0.925	0.120	17	50190027	missense variant	C/T	snv	2
rs72653137	COL1A1	0.925	0.120	17	50190008	missense variant	C/T	snv	2
rs72653143	COL1A1	0.925	0.120	17	50189867	missense variant	C/A	snv	2
rs72653152	COL1A1	0.925	0.120	17	50189520	missense variant	C/A	snv	2
rs72653154	COL1A1	0.925	0.120	17	50189430	missense variant	C/A	snv	2