DisGeNET - a database of gene-disease associations

List of shared variants

Enhanced S-Cone Syndrome, C1849394

Disease: Cone monochromatism

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
rs146403122	NR2E3	0.925	0.160	15	71811966	missense variant	G/A	snv	4.3E-03	1.8E-03	2
rs781915220	OPN1LW	0.925	0.160	X	154150787	missense variant	A/G	snv	5.5E-06		2