Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143457874
rs143457874
COL7A1 ; UCN2
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		0.010 GeneticVariation BEFREE A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa. 10233647

1999