DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Ciliary Motility Disorders ×

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	AF GENOME	Num. diseases
rs62638634	RPGR	0.925	0.080	X	38322921	missense variant	C/A	snv			2
rs1060501181	RPGR			X	38297332	stop gained	G/A	snv			1
rs1555966699	RPGR			X	38310641	missense variant	C/T	snv			1