Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053248
rs796053248
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC
A 0.700 CausalMutation CLINVAR