Variant: rs397518475 

    present in Gene: ENPP1
    present in Chromosome: 6
    Position on Chromosome: 131851241
    Alleles of this Variant: G/A

rs397518475 in ENPP1 gene and Cole disease PMID 28964717 2018 ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

PMID 24075184 2013 Cole Disease Results from Mutations in ENPP1.

PMID 26617416 2016 Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.