Variant: rs121912841

present in Gene: COL7A1;MIR711 present in Chromosome: 3 Position on Chromosome: 48578497 Alleles of this Variant: C/G;T

rs121912841 in COL7A1;MIR711 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.