rs28928893, KRT14

N. diseases: 3
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 0.882 0.120 17 41586479 missense variant A/G snv 0.810 1.000 18 1991 2006
Epidermolysis Bullosa Simplex
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
33 0.882 0.120 17 41586479 missense variant A/G snv 0.710 1.000 1 1998 1998
Hyperkeratosis
CUI: C0870082
Disease: Hyperkeratosis
19 0.882 0.120 17 41586479 missense variant A/G snv 0.010 1.000 1 1998 1998