DisGeNET - a database of gene-disease associations

List of shared variants

Severe expressive language delay, C1851085

Disease: EEG with generalized slow activity

Source: ALL

Results per page

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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42