rs121434256, AIRE

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.
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
76 0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05 0.710 1.000 5 1998 2012
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05 0.010 1.000 1 1998 1998
Keratopathy
CUI: C0235270
Disease: Keratopathy
1 0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05 0.010 1.000 1 2005 2005