Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553245943
rs1553245943
A 0.700 GeneticVariation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017

dbSNP: rs1553245943
rs1553245943
A 0.700 GeneticVariation CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013

2014

dbSNP: rs1553245943
rs1553245943
A 0.700 GeneticVariation CLINVAR Crystal structure of the sodium-potassium pump at 2.4 A resolution. 19458722

2009

dbSNP: rs1553245943
rs1553245943
A 0.700 GeneticVariation CLINVAR Epilepsy as part of the phenotype associated with ATP1A2 mutations. 18028407

2008