Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044897
rs797044897
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 19652145

2009
dbSNP: rs797044897
rs797044897
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 24123283

2014