DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Malignant Uterine Corpus Neoplasm ×

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
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23