Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568853466
rs1568853466
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		G 0.700 GeneticVariation CLINVAR ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 24842602

2014