DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Generalized hypotonia ×

Variants associated to the Gene: MTOR ×

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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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs869312671	MTOR ; MTOR-AS1	0.882	0.160	1	11144735	missense variant	C/T	snv			5