Variant: rs387906662 

    present in Gene: CSF1R
    present in Chromosome: 5
    Position on Chromosome: 150056071
    Alleles of this Variant: C/A

rs387906662 in CSF1R gene and Hereditary Diffuse Leukoencephalopathy with Spheroids PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 24532199 2014 Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.