Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781379291
rs781379291
SLC1A2
C 0.700 GeneticVariation CLINVAR De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935

2017
dbSNP: rs781379291
rs781379291
SLC1A2
C 0.700 GeneticVariation CLINVAR Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes. 24214974

2013
dbSNP: rs781379291
rs781379291
SLC1A2
C 0.700 GeneticVariation CLINVAR A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents. 23107647

2012
dbSNP: rs781379291
rs781379291
SLC1A2
C 0.700 CausalMutation CLINVAR