DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Reticulocyte count (procedure) ×

Variants associated to the Gene: PSMB5 ×

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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
rs8013143	PSMB5			14	23025068	intron variant	A/G	snv		0.43	4
rs113525195	PSMB5			14	23030112	intron variant	C/A;T	snv			2