Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912482
rs121912482
LAMB3
0.800 GeneticVariation UNIPROT Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 17476356

2007
dbSNP: rs121912487
rs121912487
LAMB3
0.800 GeneticVariation UNIPROT Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 17476356

2007
dbSNP: rs121912773
rs121912773
COL17A1
0.800 GeneticVariation UNIPROT A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 11912005

2002
dbSNP: rs121912466
rs121912466
ITGB4
0.800 GeneticVariation UNIPROT A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 10792571

2000
dbSNP: rs121912773
rs121912773
COL17A1
0.800 GeneticVariation UNIPROT Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. 10951237

2000
dbSNP: rs121912773
rs121912773
COL17A1
0.800 GeneticVariation UNIPROT Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. 10652291

2000
dbSNP: rs121912482
rs121912482
LAMB3
0.800 GeneticVariation UNIPROT E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. 9767254

1998
dbSNP: rs121912487
rs121912487
LAMB3
0.800 GeneticVariation UNIPROT E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. 9767254

1998
dbSNP: rs121912773
rs121912773
COL17A1
0.800 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: rs121912773
rs121912773
COL17A1
0.800 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
dbSNP: rs121912466
rs121912466
ITGB4
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912482
rs121912482
LAMB3
T 0.800 CausalMutation CLINVAR

dbSNP: rs121912487
rs121912487
LAMB3
G 0.800 CausalMutation CLINVAR

dbSNP: rs121912773
rs121912773
COL17A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs1217053724
rs1217053724
LAMC2
T 0.700 GeneticVariation CLINVAR Laminin: loss-of-function studies. 27696112

2017
dbSNP: rs772421306
rs772421306
LAMB3
A 0.700 CausalMutation CLINVAR Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. 23278291

2015
dbSNP: rs769967565
rs769967565
LAMB3
T 0.700 CausalMutation CLINVAR Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 22931927

2013
dbSNP: rs752317971
rs752317971
COL17A1
A 0.700 CausalMutation CLINVAR Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 21357940

2011
dbSNP: rs1478395810
rs1478395810
COL17A1
C 0.700 GeneticVariation CLINVAR Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications. 19340010

2009
dbSNP: rs121912486
rs121912486
LAMB3
0.700 GeneticVariation UNIPROT Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 17476356

2007
dbSNP: rs772421306
rs772421306
LAMB3
A 0.700 CausalMutation CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856

2006
dbSNP: rs1478395810
rs1478395810
COL17A1
C 0.700 GeneticVariation CLINVAR Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. 16354180

2005
dbSNP: rs775244527
rs775244527
COL17A1
T 0.700 GeneticVariation CLINVAR A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel. 14614394

2004
dbSNP: rs775196743
rs775196743
COL17A1
A 0.700 CausalMutation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757

2003
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