DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Liver carcinoma ×

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
rs2299939	PTEN	0.827	0.080	10	87897393	intron variant	C/A;T	snv			5
rs1234220	PTEN	0.851	0.080	10	87885716	intron variant	A/G	snv		9.1E-02	4