DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: RCBTB1 ×

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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
rs200826424	RCBTB1	0.882	0.080	13	49549530	missense variant	G/A	snv	1.4E-04	1.6E-04	2
rs368217569	RCBTB1	0.925	0.080	13	49549584	missense variant	C/T	snv	1.2E-05	2.1E-05	2
rs772592456	RCBTB1	0.882	0.080	13	49549573	missense variant	C/A	snv	8.0E-06		2
rs879255547	RCBTB1	0.925	0.080	13	49544745	missense variant	C/A	snv			1