DisGeNET - a database of gene-disease associations

List of shared variants

Seizures, C0036572

Disease: Optic Atrophy

Source: INFERRED ×

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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
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs886041091	NTRK2	0.807	0.120	9	84751990	missense variant	A/G	snv			18
rs672601367	KIF1A	0.851	0.080	2	240785066	missense variant	T/G	snv			7
rs1555303073	COL4A1	0.851	0.120	13	110176912	missense variant	C/T	snv			5