DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Poor school performance ×

Variants associated to the Gene: EEF1A2 ×

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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
rs1555883505	EEF1A2	0.827	0.160	20	63490712	missense variant	G/A	snv			10
rs587777162	EEF1A2	0.925	0.040	20	63495972	missense variant	C/T	snv			3