DisGeNET - a database of gene-disease associations

List of associated variants

Kniest dysplasia, C0265279

Source: CLINVAR ×

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
rs121912893	COL2A1	0.708	0.400	12	47983721	stop gained	G/A;T	snv			15
rs121912874	COL2A1	0.716	0.400	12	47978329	missense variant	G/A	snv			14
rs794727261	COL2A1	0.716	0.400	12	47999953	stop gained	G/T	snv			14
rs121912877	COL2A1	1.000	0.240	12	47993825	missense variant	C/T	snv			1
rs1565686170	COL2A1	1.000	0.240	12	47989227	splice donor variant	C/G	snv			1
rs587776847	COL2A1	1.000	0.240	12	47987268	splice donor variant	C/-	del			1