Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553267885
rs1553267885
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease
C 0.700 GeneticVariation CLINVAR Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. 11564184

2001