Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs557052809
rs557052809
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 24842602

2014
dbSNP: rs557052809
rs557052809
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 23409136

2013
dbSNP: rs557052809
rs557052809
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		A 0.700 CausalMutation CLINVAR Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527

2012