DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs1373067	ABCA8	17	68905225	intron variant	T/A;C	snv		1
rs4148005	ABCA8	17	68886325	intron variant	T/G	snv	0.39	1
rs4148008	ABCA8	17	68879153	non coding transcript exon variant	C/G	snv	0.40	1