Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.010 GeneticVariation BEFREE This study confirmed that p.R756C mutation of ATP1A3 cause atypical forms of AHC-associated disorders. 27634470

2016