rs179363875, 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 0.882 0.080 21 44286049 missense variant C/T snv 0.700 0
Addison Disease
CUI: C0001403
Disease: Addison Disease
13 0.882 0.080 21 44286049 missense variant C/T snv 0.010 1.000 1 2002 2002
Idiopathic Hypoparathyroidism
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
5 0.882 0.080 21 44286049 missense variant C/T snv 0.010 1.000 1 2002 2002