Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752317971
rs752317971
COL17A1
A 0.700 CausalMutation CLINVAR Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 21357940

2011
dbSNP: rs752317971
rs752317971
COL17A1
A 0.700 CausalMutation CLINVAR Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. 9077475

1997