DisGeNET - a database of gene-disease associations

List of associated variants

Cortical Congenital Hyperostosis, C0020497

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
rs72645347	COL1A1	0.790	0.280	17	50196337	missense variant	G/A	snv			10
rs72653170	COL1A1	0.752	0.240	17	50188908	missense variant	G/A	snv	8.0E-06		10
rs72645357	COL1A1	0.776	0.240	17	50196163	missense variant	C/T	snv			8
rs1555574303	COL1A1	0.790	0.240	17	50196172	missense variant	C/G	snv			7
rs66490707	COL1A1	0.790	0.240	17	50195231	splice donor variant	C/G;T	snv			7
rs66555264	COL1A1	0.790	0.240	17	50192993	splice donor variant	C/A;T	snv			7
rs67879854	COL1A1	0.790	0.240	17	50190578	missense variant	C/A;T	snv			7
rs72648326	COL1A1	0.790	0.240	17	50195288	stop gained	G/A	snv			7
rs72651642	COL1A1	0.790	0.240	17	50191826	stop gained	G/A	snv		7.0E-06	7
rs778598915	A4GALT	1.000	0.080	22	42693910	synonymous variant	G/A;T	snv	2.2E-05		1