rs60715293, KRT5

N. diseases: 2
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 Herpetiformis Dowling-Meara
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
29 0.925 0.080 12 52519756 missense variant A/G snv 0.800 1.000 10 1992 2011
Epidermolysis Bullosa Simplex
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
33 0.925 0.080 12 52519756 missense variant A/G snv 0.010 1.000 1 2011 2011