AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Polyglandular Type I Autoimmune Syndrome ×
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: rs1022025101
rs1022025101 		1.000 0.080 21 44292402 splice donor variant G/A snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0