DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: melanoma ×

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
rs121909232	PTEN	0.776	0.160	10	87952258	stop gained	C/A;G	snv	4.0E-06		9
rs121909233	KLLN ; PTEN	1.000	0.040	10	87864524	missense variant	G/A	snv			1
rs121909234	PTEN	1.000	0.040	10	87957867	missense variant	G/A	snv			1