DisGeNET - a database of gene-disease associations

Source: ALL

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

Variants associated to the Gene: ABO ×

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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
rs2519093	ABO	0.882	0.200	9	133266456	intron variant	T/C	snv			16
rs550057	ABO	0.925	0.080	9	133271182	intron variant	T/A;C	snv			11
rs630014	ABO			9	133274306	intron variant	G/A;C	snv			9
rs507666	ABO	1.000	0.040	9	133273983	intron variant	A/G	snv			8
rs9411378	ABO			9	133270015	intron variant	A/C;T	snv			5