DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Platelet Count measurement ×

Variants associated to the Gene: COPZ1 ×

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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
rs10876550	COPZ1			12	54318524	intron variant	G/A	snv		0.68	1
rs4326844	COPZ1			12	54342686	intron variant	A/C;G	snv		0.68	1