DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Moderate intellectual disability ×

Variants associated to the Gene: SCN2A ×

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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
rs869312663	SCN2A	0.882	0.200	2	165381114	missense variant	A/G	snv			5
rs869312664	SCN2A	0.925	0.160	2	165386920	stop gained	G/A;T	snv			4