DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: RP2 ×

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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
rs104894927	RP2	0.882	0.080	X	46853731	stop gained	C/T	snv			3
rs137852284	RP2	0.925	0.080	X	46837115	inframe deletion	TCC/-	delins			2
rs1556318633	RP2	0.925	0.080	X	46853725	missense variant	C/T	snv			2
rs1556318627	RP2	1.000	0.080	X	46853711	missense variant	C/A	snv			1
rs28933687	RP2	0.882	0.080	X	46853726	missense variant	G/A;T	snv			1
rs797044561	RP2	1.000	0.080	X	46837102	start lost	T/C	snv			1