Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. 27544590

2016

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. 25155989

2014

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa. 19439919

2009

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa. 17916216

2007

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. 16484981

2006

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. 15888141

2005

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. 15816848

2005

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation CLINVAR Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. 12653705

2003

dbSNP: rs757415879
rs757415879
A 0.700 CausalMutation 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