Variant: rs121912840 

    present in Gene: COL7A1
    present in Chromosome: 3
    Position on Chromosome: 48581483
    Alleles of this Variant: C/G

rs121912840 in COL7A1 gene and TOENAIL DYSTROPHY, ISOLATED PMID 11843659 2002 Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.