DisGeNET - a database of gene-disease associations

List of shared variants

Glut1 Deficiency Syndrome, C1847501

Disease: DYSTONIA 18 (disorder)

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
rs80359818	SLC2A1	0.776	0.360	1	42930766	missense variant	G/A	snv			8
rs80359825	SLC2A1	0.790	0.360	1	42929009	missense variant	G/A	snv			7