Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203899
rs118203899
LAMC2
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		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
LAMC2
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		G 0.700 CausalMutation CLINVAR