Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356534
rs80356534
ATP1A3
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		A 0.700 CausalMutation CLINVAR Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 15260953

2004