DisGeNET - a database of gene-disease associations

Source: ALL

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
rs7259620	APOE	0.925	0.120	19	44904531	upstream gene variant	G/A;C	snv			2
rs449647	APOE	0.925	0.120	19	44905307	upstream gene variant	A/T	snv		0.21	2
rs769446	APOE	0.882	0.120	19	44905371	upstream gene variant	T/C	snv		7.0E-02	6
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs1233347077	APOE	0.851	0.160	19	44905894	missense variant	G/C	snv		7.0E-06	4
rs440446	APOE	0.807	0.200	19	44905910	missense variant	C/G;T	snv	0.60		8
rs1275147925	APOE	1.000	0.080	19	44906613	missense variant	A/G	snv		7.0E-06	1
rs1270059098	APOE	1.000	0.080	19	44906634	synonymous variant	C/T	snv	4.0E-06		1
rs777551553	APOE	1.000	0.080	19	44906639	stop gained	G/A	snv	4.0E-06		1
rs769449	APOE	0.882	0.120	19	44906745	non coding transcript exon variant	G/A	snv		8.4E-02	11
rs769450	APOE	0.925	0.120	19	44907187	non coding transcript exon variant	G/A	snv		0.39	5
rs115299243	APOE			19	44907291	non coding transcript exon variant	A/G	snv		7.1E-03	1
rs533904656	APOE	1.000	0.080	19	44907768	missense variant	G/A;C	snv	1.8E-04; 8.2E-06		1
rs121918392	APOE	0.925	0.040	19	44907777	missense variant	G/A	snv	3.6E-05	7.0E-06	2
rs1440976751	APOE	1.000	0.080	19	44907789	missense variant	G/A	snv			1
rs764929617	APOE	0.776	0.200	19	44907799	missense variant	C/T	snv	4.0E-06		8
rs201672011	APOE	1.000	0.080	19	44907807	missense variant	G/A	snv	1.2E-04	4.8E-04	2
rs142480126	APOE			19	44907825	missense variant	G/A	snv	8.0E-06		1
rs121918399	APOE	0.925	0.120	19	44907843	missense variant	C/T	snv	8.0E-06		2
rs769452	APOE	0.925	0.160	19	44907853	missense variant	T/C	snv	2.5E-03	1.9E-03	2
rs11542029	APOE	1.000	0.080	19	44907864	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 1.2E-05		1
rs28931576	APOE			19	44907894	missense variant	A/G	snv	1.2E-05	1.4E-05	1
rs397514253	APOE	1.000	0.080	19	44908531	splice acceptor variant	A/G	snv			1
rs1050106163	APOE	1.000	0.040	19	44908618	missense variant	C/T	snv		7.0E-06	1
rs1167428194	APOE	1.000	0.080	19	44908634	missense variant	A/C	snv			1