rs61263401, KRT14

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 Kobner
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
28 0.925 0.080 17 41586480 missense variant T/C snv 0.700 0
Weber-Cockayne Syndrome
CUI: C0080333
Disease: Weber-Cockayne Syndrome
42 0.925 0.080 17 41586480 missense variant T/C snv 0.700 0