DisGeNET - a database of gene-disease associations

List of shared variants

Photoreceptor degeneration, C1998028

Disease: Retinitis Pigmentosa

Source: ALL

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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
rs104893768	RHO	0.807	0.080	3	129528801	missense variant	C/A	snv			11
rs29001566	RHO	0.807	0.080	3	129533711	missense variant	C/A;G;T	snv			10
rs61752871	RPE65	0.827	0.080	1	68444858	missense variant	G/A	snv	5.6E-05	6.3E-05	6
rs104893779	RHO	0.851	0.080	3	129532288	missense variant	G/A;T	snv	4.0E-06		4
rs1177783734	LOC101929066 ; ASAH1	0.925	0.080	8	18083991	missense variant	T/G	snv	4.5E-06	7.0E-06	4
rs527236100	RHO	0.851	0.080	3	129532282	missense variant	G/A	snv			4
rs759589388	PDE6A	0.925	0.080	5	149895227	missense variant	G/A	snv	1.2E-05		2