Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231435
rs606231435
0.720 GeneticVariation BEFREE Furthermore, his phenotype of marked ataxia was more similar to that of an Arg756Cys patient with relapsing encephalopathy and cerebellar ataxia syndrome, than to those with Arg756His and Arg756Leu mutations. 29066118

2018

dbSNP: rs606231435
rs606231435
0.720 GeneticVariation BEFREE We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. 22924536

2012

dbSNP: rs606231435
rs606231435
T 0.720 CausalMutation CLINVAR