Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs549006436
rs549006436
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		C 0.700 GeneticVariation CLINVAR Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 26410222

2015
dbSNP: rs549006436
rs549006436
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		C 0.700 GeneticVariation CLINVAR The expanding clinical and genetic spectrum of ATP1A3-related disorders. 24523486

2014
dbSNP: rs549006436
rs549006436
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		C 0.700 GeneticVariation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012