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 48579271 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 14 1993 2010
Epidermolysis Bullosa Dystrophica
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
15 0.925 0.080 3 48579271 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 3 1999 2017