COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Epidermolysis Bullosa Dystrophica ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886058642
rs886058642
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079294
Disease:
Epidermolysis Bullosa Dystrophica 		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
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079294
Disease:
Epidermolysis Bullosa Dystrophica 		T 0.700 GeneticVariation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757 2003
dbSNP: rs886058642
rs886058642
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079294
Disease:
Epidermolysis Bullosa Dystrophica 		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