rs59840738, 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 Kobner
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
28 1.000 0.080 12 52517714 missense variant A/G snv 0.700 1.000 7 1993 2011