Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555859593
rs1555859593
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Alternating hemiplegia of childhood. 8496742

1993
dbSNP: rs1555859593
rs1555859593
ATP1A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014