Variant: rs1565593355 

    present in Gene: KRT5
    present in Chromosome: 12
    Position on Chromosome: 52518117
    Alleles of this Variant: C/-

rs1565593355 in KRT5 gene and Epidermolysis Bullosa Simplex PMID 16465624 2006 Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

PMID 20199538 2010 Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.