DisGeNET - a database of gene-disease associations

List of shared variants

CHOREOATHETOSIS/SPASTICITY, EPISODIC, C1832855

Disease: GLUT1 DEFICIENCY SYNDROME 1

Source: ALL

Results per page

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
rs13306758	SLC2A1	0.807	0.360	1	42927148	missense variant	G/A;T	snv	2.8E-03		6
rs796053248	SLC2A1	0.807	0.360	1	42929885	missense variant	G/A;T	snv	4.0E-06		6
rs1557646867	SLC2A1	0.827	0.360	1	42931159	frameshift variant	-/T	delins			5
rs796053272	SLC2A1	0.827	0.360	1	42943323	splice acceptor variant	T/C	snv			5
rs387907312	SLC2A1	0.882	0.200	1	42929918	missense variant	G/A	snv			3