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.
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
54 0.925 0.080 3 48565160 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.020 1.000 2 2008 2009
Epidermolysis Bullosa Dystrophica
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
15 0.925 0.080 3 48565160 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2004 2004