DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinal Dystrophies ×

Variants associated to the Gene: CERKL ×

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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
rs121909398	CERKL	0.827	0.080	2	181558617	stop gained	G/A;C	snv	3.5E-04; 4.0E-06		6
rs1553512879	CERKL			2	181544799	splice region variant	G/C	snv			1
rs201186440	CERKL			2	181656814	stop gained	C/A;T	snv	1.3E-04		1
rs569826109	CERKL	1.000	0.080	2	181604002	missense variant	G/A;T	snv	5.2E-05; 5.2E-05		1
rs750151209	CERKL			2	181548785	frameshift variant	AT/-	del	1.2E-05		1