DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ×

Variants associated to the Gene: SLC2A1 ×

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
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
rs80359825	SLC2A1	0.790	0.360	1	42929009	missense variant	G/A	snv			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
rs80359818	SLC2A1	0.776	0.360	1	42930766	missense variant	G/A	snv			5
rs864309514	SLC2A1	1.000	0.280	1	42929603	missense variant	C/T	snv			1
rs864309522	SLC2A1	1.000	0.280	1	42927212	inframe deletion	TGA/-	delins			1