Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510

2010
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT EB simplex superficialis resulting from a mutation in the type VII collagen gene. 11874498

2002
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. 11142768

2000
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. 10836608

2000
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa. 10232407

1999
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT "Diagnostic dilemma of ""sporadic"" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?" 10232406

1999
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. 10084325

1999
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. 10232408

1999
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). 10233777

1999
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 9740253

1998
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. 9856843

1998
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. 9668111

1998
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. 9215684

1997
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. 7861014

1995
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. 8170945

1994
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. 2653224

1989
dbSNP: rs121912844
rs121912844
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR