DisGeNET - a database of gene-disease associations

List of associated variants

Glut1 Deficiency Syndrome, C1847501

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
rs1345986424	SLC2A1	0.851	0.160	1	42943291	stop gained	C/A;T	snv			4
rs80359816	SLC2A1	0.882	0.080	1	42930765	missense variant	C/A;T	snv			3
rs80359823	SLC2A1	0.882	0.080	1	42929298	missense variant	G/A	snv			3
rs794729221	SLC2A1	0.925	0.240	1	42929736	stop gained	G/A	snv			2
rs80359819	SLC2A1	0.925	0.080	1	42930754	missense variant	C/G;T	snv			2