rs1560241522, COL7A1

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Epidermolysis Bullosa Dystrophica
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
15 1.000 0.080 3 48583945 frameshift variant A/- del 0.700 0