DisGeNET - a database of gene-disease associations

List of associated variants

CONE-ROD DYSTROPHY, X-LINKED, 1, C1844776

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
rs606231180	RPGR	0.925	0.080	X	38285902	frameshift variant	CC/-	delins			3
rs137852551	RPGR	1.000	0.080	X	38286070	stop gained	C/A	snv			1
rs267607019	RPGR	1.000	0.080	X	38286151	stop gained	CT/AG	mnv			1
rs281865297	RPGR	1.000	0.080	X	38317449	frameshift variant	AA/-;A	delins			1
rs606231181	RPGR	1.000	0.080	X	38285906	frameshift variant	TC/-	delins			1
rs771214648	RPGR	1.000	0.080	X	38285820	frameshift variant	CT/-	delins	1.1E-05		1