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 48565636 stop gained G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2004 2004
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
54 0.925 0.080 3 48565636 stop gained G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 1999 1999