DisGeNET - a database of gene-disease associations

List of shared variants

Oculocerebrorenal Syndrome, C0028860

Disease: Dent Disease 2

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
rs137853263	OCRL	0.925	0.200	X	129562396	missense variant	C/A;T	snv			2
rs776743373	OCRL	0.925	0.200	X	129562373	intron variant	G/A;T	snv	2.2E-05		2