DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Low density lipoprotein cholesterol measurement ×

Variants associated to the Gene: APOE ×

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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
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	26
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	20
rs769449	APOE	0.882	0.120	19	44906745	non coding transcript exon variant	G/A	snv		8.4E-02	8
rs769446	APOE	0.882	0.120	19	44905371	upstream gene variant	T/C	snv		7.0E-02	3
rs769455	APOE	0.827	0.120	19	44908783	missense variant	C/T	snv	1.4E-03	6.9E-03	2
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	1
rs769450	APOE	0.925	0.120	19	44907187	non coding transcript exon variant	G/A	snv		0.39	1