DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: RPGR ×

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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	Num. diseases
rs730882261	RPGR	0.882	0.080	X	38286572	frameshift variant	CT/-	delins		3
rs1555961852	RPGR	0.925	0.080	X	38286762	frameshift variant	CT/-	delins		2
rs1569237206	RPGR	0.925	0.080	X	38286615	frameshift variant	T/-	del		2
rs398122960	RPGR	0.925	0.080	X	38286593	frameshift variant	CT/-	delins		2
rs62638646	RPGR	0.925	0.280	X	38318828	splice donor variant	C/A;T	snv		2
rs62642057	RPGR	0.882	0.080	X	38304746	missense variant	C/T	snv		2
rs1555961832	RPGR	1.000	0.080	X	38286675	frameshift variant	TC/-	delins		1
rs1555961849	RPGR	1.000	0.080	X	38286748	frameshift variant	CT/-	delins		1
rs1555961964	RPGR	1.000	0.080	X	38287102	frameshift variant	CTGT/-	delins		1
rs1555962831	RPGR	1.000	0.080	X	38290956	splice region variant	T/A	snv		1
rs1555962965	RPGR	1.000	0.080	X	38291470	stop gained	C/A	snv		1
rs1555964122	RPGR	1.000	0.080	X	38297305	frameshift variant	G/-	delins		1
rs1555964133	RPGR	1.000	0.080	X	38297325	frameshift variant	CT/-	delins		1
rs1555965653	RPGR	1.000	0.080	X	38304654	frameshift variant	-/T	delins		1
rs1555965712	RPGR	1.000	0.080	X	38304793	splice region variant	G/T	snv		1
rs1555968526	RPGR	1.000	0.080	X	38323427	missense variant	A/C	snv		1
rs1569257917	RPGR	1.000	0.080	X	38317347	frameshift variant	GATCCAGGAGA/-	delins		1
rs527236108	RPGR	1.000	0.080	X	38287018	stop gained	C/A	snv		1
rs527236109	RPGR	1.000	0.080	X	38299113	frameshift variant	-/TACC	delins		1
rs527236111	RPGR	1.000	0.080	X	38304674	frameshift variant	AA/-	del		1
rs527236112	RPGR	1.000	0.080	X	38304647	missense variant	C/G	snv		1
rs62638633	RPGR	1.000	0.080	X	38321091	splice acceptor variant	T/C	snv		1
rs771039023	RPGR	1.000	0.080	X	38298964	stop gained	T/A;C	snv	1.1E-05	1