DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs200070962	SCN1A-AS1 ; SCN9A	0.882	0.120	2	166203996	stop gained	C/T	snv	4.1E-06		3
rs766212849	SCN9A ; SCN1A-AS1	0.882	0.120	2	166278199	frameshift variant	CTTAA/-	delins			3