Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203899
rs118203899
G 0.700 GeneticVariation CLINVAR A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. 7849725

1994

dbSNP: rs118203899
rs118203899
G 0.700 CausalMutation CLINVAR