AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Autoimmune polyendocrinopathy syndrome, type 1 ×
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: rs755490967
rs755490967 		0.925 0.080 21 44288413 stop gained C/T snv 4.0E-06 2.1E-05
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012