Variant: rs1557541619 

    present in Gene: PUM1;SNORD103A
    present in Chromosome: 1
    Position on Chromosome: 30936663
    Alleles of this Variant: G/A

rs1557541619 in PUM1;SNORD103A 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.