rs121912836, COL7A1

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.
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
25 0.882 0.080 3 48575392 missense variant C/A;T snv 0.800 1.000 14 1994 2010
Cockayne-Touraine Disease
CUI: C0079136
Disease: Cockayne-Touraine Disease
3 0.882 0.080 3 48575392 missense variant C/A;T snv 0.030 1.000 3 1997 2001
Epidermolysis Bullosa Dystrophica
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
15 0.882 0.080 3 48575392 missense variant C/A;T snv 0.020 1.000 2 1998 2004