present in Gene: COL7A1;MIR711
present in Chromosome: 3
Position on Chromosome: 48579489
Alleles of this Variant: -/G
rs1057517723 in
COL7A1;MIR711 gene and
Epidermolysis Bullosa Dystrophica
PMID 19681861 2009 Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
PMID 27899325 2017 Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
PMID 16439963 2006 Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.