Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs536681257
rs536681257
ATP1A3
0.020 GeneticVariation BEFREE Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC. 26463346

2016
dbSNP: rs536681257
rs536681257
ATP1A3
0.020 GeneticVariation BEFREE Myshkin mutant mice carry an amino acid change (I810N) that affects the same position in Na(+),K(+)-ATPase α3 as I810S found in AHC. 23527305

2013