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: rs2776377
rs2776377 		1.000 0.120 21 44284761 upstream gene variant A/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3761389
rs3761389 		1.000 0.120 21 44285055 upstream gene variant G/A snv 0.14
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2017 2017
dbSNP: rs121434258
rs121434258 		1.000 0.080 21 44286007 start lost A/G;T snv 7.8E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 3 2006 2017
dbSNP: rs1555871777
rs1555871777 		1.000 0.080 21 44286023 frameshift variant TACGC/- delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
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
dbSNP: rs179363875
rs179363875 		0.882 0.080 21 44286049 missense variant C/T snv
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs179363875
rs179363875 		0.882 0.080 21 44286049 missense variant C/T snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs179363876
rs179363876 		1.000 0.080 21 44286050 missense variant G/A;T snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs179363877
rs179363877 		1.000 0.080 21 44286053 missense variant C/T snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs179363886
rs179363886 		1.000 0.080 21 44286068 missense variant C/T snv 7.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.800 1.000 6 2002 2012
dbSNP: rs179363878
rs179363878 		1.000 0.080 21 44286089 missense variant T/C snv 2.8E-05 1.4E-05
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs179363879
rs179363879 		0.925 0.160 21 44286092 missense variant T/C snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.710 1.000 1 2007 2007
dbSNP: rs179363879
rs179363879 		0.925 0.160 21 44286092 missense variant T/C snv
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2007 2007
dbSNP: rs179363879
rs179363879 		0.925 0.160 21 44286092 missense variant T/C snv
CUI: C0276223
Disease: Recurrent herpes simplex
Recurrent herpes simplex 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs886041293
rs886041293 		1.000 0.080 21 44286139 splice donor variant GTG/CT delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2015
dbSNP: rs1057516272
rs1057516272 		1.000 0.080 21 44286581 stop gained G/T snv 4.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886041124
rs886041124 		1.000 0.080 21 44286628 frameshift variant -/CAGG delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 2 1999 2009
dbSNP: rs179363887
rs179363887 		1.000 0.080 21 44286654 missense variant T/C snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs179363880
rs179363880 		1.000 0.080 21 44286656 missense variant T/A;C snv 8.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.800 1.000 10 1991 2016
dbSNP: rs1057516499
rs1057516499 		1.000 0.080 21 44286657 stop gained 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
dbSNP: rs179363881
rs179363881 		1.000 0.080 21 44286662 missense variant G/T snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs267606642
rs267606642 		1.000 0.080 21 44286663 missense variant T/G snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121434255
rs121434255 		1.000 0.080 21 44286671 missense variant A/G snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.800 1.000 20 1997 2016
dbSNP: rs179363882
rs179363882 		1.000 0.080 21 44286678 missense variant A/G snv 4.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.810 1.000 1 2005 2005
dbSNP: rs1057516225
rs1057516225 		1.000 0.080 21 44286679 stop gained C/A snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0