DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: RPE65 ×

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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
rs121917745	RPE65	0.851	0.080	1	68429835	missense variant	G/A	snv	8.0E-06	2.8E-05	3
rs368088025	RPE65	0.882	0.080	1	68446825	stop gained	G/A;T	snv	2.4E-05		3
rs61752871	RPE65	0.827	0.080	1	68444858	missense variant	G/A	snv	5.6E-05	6.3E-05	3
rs62653011	RPE65	0.882	0.080	1	68438213	missense variant	A/G	snv	6.8E-05	7.7E-05	3
rs61751281	RPE65	0.925	0.080	1	68446837	missense variant	C/T	snv	2.4E-05	2.8E-05	1