DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinal Dystrophies ×

Variants associated to the Gene: PRPF31 ×

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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
rs1555792415	PRPF31			19	54122531	frameshift variant	A/-	delins			1
rs868538598	PRPF31	1.000	0.080	19	54128187	stop gained	C/T	snv			1
rs869312187	PRPF31			19	54128351	stop gained	C/A;T	snv			1
rs878853331	PRPF31			19	54122573	frameshift variant	G/-	delins			1
rs878853334	PRPF31			19	54128121	stop gained	C/T	snv			1
rs878853335	PRPF31			19	54128094	stop gained	G/T	snv			1