Variant: rs1557084491 

    present in Gene: WDR45
    present in Chromosome: X
    Position on Chromosome: 49077749
    Alleles of this Variant: T/C

rs1557084491 in WDR45 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 PMID 24368176 2014 Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 25744623 2015 High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.