Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231435
rs606231435
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR <b>Conclusion:</b> The p. R756H heterozygous mutation in ATP1A3 gene is the pathogenic mutation of RDP, analysis of genotype-phenotype correlations of RDP will be very important and meaningful. 28441826

2017
dbSNP: rs606231435
rs606231435
ATP1A3
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		T 0.700 CausalMutation CLINVAR Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25996915

2015