DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Finding of Mean Corpuscular Hemoglobin ×

Variants associated to the Gene: PVT1 ×

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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
rs12548939	TMEM75 ; PVT1			8	127946525	intron variant	C/T	snv		0.24	2
rs66824612	PVT1			8	127955573	intron variant	C/T	snv		0.29	1