DisGeNET - a database of gene-disease associations

List of shared variants

Autosomal dominant retinitis pigmentosa, C0339525

Disease: RETINITIS PIGMENTOSA 1

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
rs104894082	RP1	0.882	0.080	8	54625911	stop gained	C/T	snv			3
rs180729424	RP1	0.925	0.080	8	54621481	missense variant	T/C;G	snv	9.6E-05		2