DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: CLRN1 ×

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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
rs111033258	CLRN1-AS1 ; CLRN1	0.851	0.200	3	150972565	missense variant	A/C	snv	2.7E-04	1.5E-04	4
rs111033267	CLRN1 ; CLRN1-AS1	0.851	0.200	3	150972520	stop gained	G/A;T	snv	1.2E-05; 1.2E-05		2