DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Mean Corpuscular Volume (result) ×

Variants associated to the Gene: ACOXL ×

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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
rs10197140	ACOXL			2	110852366	intron variant	T/C	snv		0.28	3
rs4848370	ACOXL ; MIR4435-2HG			2	111054088	intron variant	C/T	snv		0.25	2
rs10207392	ACOXL ; MIR4435-2HG			2	111092082	intron variant	A/G	snv		0.48	1