rs747912732, COL7A1

N. diseases: 1
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 1.000 0.080 3 48585068 frameshift variant -/C delins 2.0E-05 7.0E-06 0.700 1.000 1 2007 2007