Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356533
rs80356533
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.800 CausalMutation CLINVAR Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking. 20558373

2010
dbSNP: rs80356533
rs80356533
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.800 CausalMutation CLINVAR The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. 17282997

2007
dbSNP: rs80356533
rs80356533
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.800 CausalMutation CLINVAR Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 15260953

2004