AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA ×
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: rs386833675
rs386833675 		0.925 0.080 21 44291180 frameshift variant CTGTCCCCTCCGC/- delins
CUI: C2749602
Disease: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906295
rs387906295 		1.000 0.080 21 44289793 frameshift variant C/- del 1.4E-05
CUI: C2749602
Disease: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA 		Immune System Diseases; Endocrine System Diseases 0.700 0