DisGeNET - a database of gene-disease associations

List of associated variants

Episodic Ataxia, C1720189

Source: ALL

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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
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
rs786200963	CACNA1A	0.827	0.200	19	13371683	splice region variant	C/T	snv			6
rs1805031	CACNB4	0.851	0.080	2	151880879	missense variant	C/A	snv	4.7E-04	7.3E-04	5
rs796053124	SCN2A	0.882	0.080	2	165354232	missense variant	G/T	snv			4
rs863224852	CACNA1A	0.882	0.160	19	13359680	missense variant	C/T	snv			3
rs121908226	CACNA1A	0.925	0.120	19	13231847	missense variant	C/T	snv			2
rs137852620	SLC1A3	0.925	0.080	5	36674080	missense variant	T/A;G	snv			2