AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs179363875
rs179363875
0.882 0.080 21 44286049 missense variant C/T snv
CUI: C0001403
Disease: Addison Disease
Addison Disease
Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002