DisGeNET - a database of gene-disease associations

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
rs386834261	RDH12 ; GPHN ; ZFYVE26	0.882	0.080	14	67729337	frameshift variant	CCCTG/-	delins		9.1E-05	5
rs116733939	GPHN ; RDH12	0.925	0.040	14	67727056	missense variant	C/T	snv	1.6E-05	3.5E-05	2