Variant: rs28931610 

    present in Gene: DSP
    present in Chromosome: 6
    Position on Chromosome: 7584358
    Alleles of this Variant: C/T

rs28931610 in DSP gene and Skin Fragility-Woolly Hair Syndrome PMID 11841538 2002 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.