DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Platelet mean volume determination (procedure) ×

Variants associated to the Gene: KIF1B ×

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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
rs17396340	KIF1B			1	10226118	intron variant	G/A;C	snv			3
rs11121529	KIF1B			1	10211630	5 prime UTR variant	C/G	snv		0.20	1