Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200891944
rs200891944
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 15260953

2004
dbSNP: rs200891944
rs200891944
ATP1A3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017