Variant: rs1557539450 

    present in Gene: PUM1
    present in Chromosome: 1
    Position on Chromosome: 30933339
    Alleles of this Variant: G/A

rs1557539450 in PUM1 gene and SPINOCEREBELLAR ATAXIA 47 PMID 29474920 2018 A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.