DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Impaired cognition ×

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
rs63750306	PSEN1	0.701	0.320	14	73173663	missense variant	A/C;G;T	snv			17
rs17125721	PSEN1	0.763	0.120	14	73206470	missense variant	A/G	snv	1.5E-02	1.5E-02	14
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		13
rs63751287	PSEN1	0.742	0.120	14	73192792	missense variant	A/G;T	snv			13
rs63750522	PSEN1	0.827	0.120	14	73173644	missense variant	G/A;C	snv			8
rs63749806	PSEN1	0.827	0.080	14	73186902	missense variant	T/C	snv			7