DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Malignant neoplasm of breast ×

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
rs786204929	PTEN	0.752	0.200	10	87933144	stop gained	G/A;T	snv			3
rs869312777	PTEN	0.925	0.120	10	87933245	missense variant	C/G	snv			3
rs1114167628	PTEN	0.925	0.080	10	87961033	stop gained	-/ATATCTAG	delins			1