rs59151464, KRT1

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 Simplex
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
33 0.925 0.080 12 52679790 missense variant G/A snv 0.010 1.000 1 2007 2007
Hyperkeratosis, Epidermolytic
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
35 0.925 0.080 12 52679790 missense variant G/A snv 0.010 1 2007 2007