DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Cognition Disorders ×

Variants associated to the Gene: PSEN1 ×

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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
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		4
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;G;T	snv			1