rs121912771, COL17A1

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.
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
35 0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04 0.700 1.000 5 1996 2002
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
2 0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04 0.700 0
Junctional Epidermolysis Bullosa
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
9 0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04 0.010 1.000 1 1997 1997