DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Serum LDL cholesterol measurement ×

Variants associated to the Gene: ABCA4 ×

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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
rs11806129	ABCA4			1	94016821	intron variant	A/G;T	snv			3
rs12087003	ABCA4			1	94037627	intron variant	A/G	snv		6.3E-02	3
rs17110922	ABCA4			1	94043489	intron variant	A/T	snv	2.5E-03	9.9E-03	2