Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517723
rs1057517723
COL7A1 ; MIR711
TG 0.700 CausalMutation CLINVAR 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. 19681861

2009
dbSNP: rs144023803
rs144023803
COL7A1
A 0.700 CausalMutation CLINVAR Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. 24032424

2013
dbSNP: rs757415879
rs757415879
COL7A1
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: rs747912732
rs747912732
COL7A1
TC 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 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 16971478

2007
dbSNP: rs1057517723
rs1057517723
COL7A1 ; MIR711
TG 0.700 CausalMutation CLINVAR Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. 27899325

2017
dbSNP: rs757415879
rs757415879
COL7A1
A 0.700 CausalMutation CLINVAR Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. 12653705

2003
dbSNP: rs1032335328
rs1032335328
COL7A1 ; MIR711
A 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
dbSNP: rs144023803
rs144023803
COL7A1
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
dbSNP: rs757415879
rs757415879
COL7A1
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
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
dbSNP: rs757415879
rs757415879
COL7A1
A 0.700 CausalMutation CLINVAR COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa. 17916216

2007
dbSNP: rs144023803
rs144023803
COL7A1
A 0.700 CausalMutation CLINVAR Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. 9326325

1997
dbSNP: rs757415879
rs757415879
COL7A1
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: rs121912856
rs121912856
COL7A1
C 0.720 CausalMutation CLINVAR Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510

2010
dbSNP: rs757415879
rs757415879
COL7A1
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: rs144023803
rs144023803
COL7A1
A 0.700 CausalMutation CLINVAR A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. 7833933

1994
dbSNP: rs1055680335
rs1055680335
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560241522
rs1560241522
COL7A1
C 0.700 CausalMutation CLINVAR