rs1565593355, KRT5

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 Simplex
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
33 1.000 0.080 12 52518117 frameshift variant C/- del 0.700 1.000 2 2006 2010