Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510

2010

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. 12787275

2003

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets. 11167698

2001

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa. 10620140

2000

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. 10084325

1999

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. 9804332

1998

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 9740253

1998

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
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: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT 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: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. 9444387

1997

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa. 8618018

1996

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. 8757758

1996

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. 8592061

1996

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. 8513326

1993

dbSNP: rs121912828
rs121912828
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
T 0.800 CausalMutation CLINVAR

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510

2010

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. 12787275

2003

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets. 11167698

2001

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa. 10620140

2000

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. 10084325

1999

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. 9804332

1998

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 9740253

1998

dbSNP: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT 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: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
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: rs121912838
rs121912838
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.800 GeneticVariation UNIPROT Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. 9444387

1997