Gene: ATP1A3 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606670
rs267606670
ATP1A3
0.010 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
ATP1A3
0.010 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