Variant: rs782557596 

    present in Gene: PRAF2;WDR45
    present in Chromosome: X
    Position on Chromosome: 49075239
    Alleles of this Variant: G/A;C

rs782557596 in PRAF2;WDR45 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 PMID 30612247 2019 A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.