rs80338756, PLEC

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, Ogna type
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
9 0.925 0.080 8 143924012 missense variant G/A;C;T snv 0.800 1.000 1 2002 2002
Epidermolysis Bullosa Simplex Kobner
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
28 0.925 0.080 8 143924012 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005