Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122887
rs398122887
ATP1A3
0.030 GeneticVariation BEFREE Fibroblasts derived from two subjects with AHC, a male and a female, both heterozygous for the common ATP1A3 mutation G947R, were reprogrammed to iPSCs. 29567111

2018
dbSNP: rs398122887
rs398122887
ATP1A3
0.030 GeneticVariation BEFREE Correlations between different mutations and AHC severity were recently reported, with E815K identified in severe and D801N and G947R in milder cases. 25681536

2015
dbSNP: rs398122887
rs398122887
ATP1A3
0.030 GeneticVariation BEFREE Functional impairment of Na(+),K(+)-ATPase in mutants S137Y, I274N, D801N, E815K, and G947R might explain why patients having these mutations suffer from AHC. 24631656

2014