rs1368134215, 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 48575673 stop gained G/A snv 0.010 1.000 1 2000 2000
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
54 0.925 0.080 3 48575673 stop gained G/A snv 0.010 1.000 1 2000 2000