Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356537
rs80356537
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
T 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016

dbSNP: rs80356537
rs80356537
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
T 0.800 CausalMutation CLINVAR Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 24631656

2014

dbSNP: rs80356537
rs80356537
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
T 0.800 CausalMutation CLINVAR Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 23409136

2013

dbSNP: rs80356537
rs80356537
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
T 0.800 CausalMutation CLINVAR Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527

2012

dbSNP: rs80356537
rs80356537
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
T 0.800 CausalMutation CLINVAR De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232

2012

dbSNP: rs80356537
rs80356537
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
G 0.800 GeneticVariation CLINVAR