Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912771
rs121912771
COL17A1
0.700 GeneticVariation UNIPROT A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 11912005

2002
dbSNP: rs121912771
rs121912771
COL17A1
0.700 GeneticVariation UNIPROT Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. 10951237

2000
dbSNP: rs121912771
rs121912771
COL17A1
0.700 GeneticVariation UNIPROT Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. 10652291

2000
dbSNP: rs121912771
rs121912771
COL17A1
0.700 GeneticVariation UNIPROT Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. 9199555

1997
dbSNP: rs121912771
rs121912771
COL17A1
0.700 GeneticVariation UNIPROT Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. 8669466

1996