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: 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: rs121912482
rs121912482
LAMB3
T 0.800 CausalMutation CLINVAR