Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907312
rs387907312
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR

dbSNP: rs80359818
rs80359818
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557646867
rs1557646867
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs796053248
rs796053248
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.700 CausalMutation CLINVAR

dbSNP: rs796053272
rs796053272
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		C 0.700 CausalMutation CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116

2014
dbSNP: rs80359825
rs80359825
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.700 CausalMutation CLINVAR