DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: White Blood Cell Count procedure ×

Variants associated to the Gene: EPS15L1 ×

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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
rs10411936	EPS15L1	1.000	0.080	19	16437564	intron variant	A/G	snv		0.63	2
rs2290669	EPS15L1			19	16384963	intron variant	A/C;G;T	snv			1
rs78663649	EPS15L1			19	16378636	intron variant	C/T	snv		8.0E-02	1