Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912837
rs121912837
COL7A1
0.700 GeneticVariation UNIPROT Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. 10383749

1999
dbSNP: rs121912837
rs121912837
COL7A1
0.700 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