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 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 27091223

2016
dbSNP: rs797044897
rs797044897
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013