rs121912844, COL7A1

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.
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
25 0.925 0.080 3 48575419 missense variant C/T snv 4.2E-06 0.800 1.000 16 1989 2010
Epidermolysis Bullosa Pruriginosa
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
11 0.925 0.080 3 48575419 missense variant C/T snv 4.2E-06 0.010 1.000 1 2015 2015