Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886058642
rs886058642
COL7A1
T 0.700 GeneticVariation CLINVAR Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 16971478

2007
dbSNP: rs886058642
rs886058642
COL7A1
T 0.700 GeneticVariation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757

2003
dbSNP: rs886058642
rs886058642
COL7A1
T 0.700 GeneticVariation CLINVAR Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. 10504458

1999