DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Seizures ×

Variants associated to the Gene: ATP7A ×

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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
rs72554640	PGK1 ; ATP7A	0.882	0.160	X	78011239	stop gained	C/T	snv			9
rs72554644	ATP7A ; PGK1	1.000	0.160	X	78012885	stop gained	G/A;T	snv			1