DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Seizures ×

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
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10
rs1085308040	PTEN	0.851	0.200	10	87961096	missense variant	G/A;T	snv			6