DisGeNET - a database of gene-disease associations

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
rs777686211	CPLANE1	0.851	0.200	5	37226776	frameshift variant	A/-;AA	delins		1.8E-04	5
rs863225154	CPLANE1	0.925	0.160	5	37122429	splice donor variant	C/A;T	snv	8.0E-06; 4.0E-06		2