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	Num. diseases
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv	23
rs121909323	CACNA1A	0.790	0.160	19	13277122	stop gained	G/A	snv	8
rs786200962	CACNA1A	0.827	0.120	19	13298768	frameshift variant	A/-	del	7