DisGeNET - a database of gene-disease associations

List of shared variants

Alternating hemiplegia of childhood, C0338488

Disease: DYSTONIA 12

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
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			17
rs387907281	ATP1A3	0.752	0.280	19	41970284	missense variant	C/T	snv			13
rs1064797245	ATP1A3	0.776	0.280	19	41970540	missense variant	G/A	snv			12
rs557052809	ATP1A3	0.827	0.160	19	41975629	missense variant	C/A;T	snv			5