DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Alzheimer's Disease ×

Variants associated to the Gene: ABCA7 ×

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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
rs3764650	ABCA7	0.790	0.200	19	1046521	intron variant	T/G	snv		0.14	8
rs4147929	ABCA7	0.882	0.120	19	1063444	intron variant	A/C;G	snv			3
rs148078867	ABCA7	0.925	0.080	19	1044727	missense variant	C/G	snv	2.2E-04	2.1E-04	2
rs200538373	ABCA7	0.925	0.120	19	1061893	splice region variant	G/A;C	snv	2.5E-03		2
rs115550680	ABCA7	1.000	0.080	19	1050421	intron variant	A/G	snv		1.7E-02	1
rs3752232	ABCA7	1.000	0.080	19	1043749	missense variant	A/G	snv	5.5E-02	0.10	1
rs3752246	ABCA7	1.000	0.080	19	1056493	missense variant	G/C;T	snv	0.84; 4.1E-06		1
rs72973581	ABCA7	1.000	0.080	19	1043104	missense variant	G/A	snv	4.2E-02	4.0E-02	1
rs78117248	ABCA7	1.000	0.080	19	1052854	intron variant	A/G	snv		1.5E-02	1