DisGeNET - a database of gene-disease associations

List of associated variants

Absence Seizures, C4316903

Source: CURATED ×

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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
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		30
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs774843232	PGAP2	0.851	0.080	11	3825024	missense variant	G/A;C;T	snv	8.0E-06; 3.6E-05; 1.2E-05		8
rs1557644984	SLC2A1	0.925	0.080	1	42927622	missense variant	A/G	snv			5
rs121909673	GABRG2	0.776	0.080	5	162093965	missense variant	G/A	snv			3