DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Bannayan-Riley-Ruvalcaba Syndrome ×

Variants associated to the Gene: PTEN ×

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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
rs863224909	PTEN	0.732	0.360	10	87960952	stop gained	C/A;G	snv			14
rs587782350	PTEN	0.776	0.160	10	87957955	missense variant	C/T	snv			9