DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Genetic Diseases, Inborn ×

Variants associated to the Gene: ATP1A3 ×

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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
rs80356537	ATP1A3	0.821	0.250	19	41970405	missense variant	C/A,G,T	snp			4
rs606231435	ATP1A3	0.923	0.036	19	41970539	missense variant	C/T	snp			3
rs1064797245	ATP1A3	1.000		19	41970540	missense variant	G/A	snp			2
rs200891944	ATP1A3			19	41981976	missense variant	C/A	snp			1
rs797044897	ATP1A3			19	41984940	missense variant	T/C	snp			1