rs1055680335, COL7A1

N. diseases: 2
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 0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06 0.700 0
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
54 0.925 0.080 3 48575497 missense variant G/A;C snv 4.1E-06 0.700 0