SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907312
rs387907312
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602 2011
dbSNP: rs387907312
rs387907312
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		0.800 GeneticVariation UNIPROT
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR
dbSNP: rs796053272
rs796053272
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		C 0.700 CausalMutation CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116 2014
dbSNP: rs13306758
rs13306758
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557646867
rs1557646867
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs796053248
rs796053248
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80359825
rs80359825
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.700 CausalMutation CLINVAR