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: rs179363889
rs179363889 		1.000 0.080 21 44297705 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.800 1.000 25 1997 2017
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: rs121434257
rs121434257 		0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.710 1.000 20 1997 2016
dbSNP: rs150634562
rs150634562 		1.000 0.080 21 44291116 missense variant G/A snv 1.0E-03 9.2E-04
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 20 1997 2016
dbSNP: rs386833674
rs386833674 		1.000 0.080 21 44291147 missense variant G/A 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: rs121434254
rs121434254 		0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.760 1.000 14 1997 2018
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: rs386833675
rs386833675 		0.925 0.080 21 44291180 frameshift variant CTGTCCCCTCCGC/- delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 10 1998 2016
dbSNP: rs140630532
rs140630532 		1.000 0.080 21 44286698 missense variant C/T snv 2.1E-05
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 7 2008 2017
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: rs2075876
rs2075876 		0.925 0.120 21 44289270 non coding transcript exon variant G/A snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.860 0.833 6 2011 2019
dbSNP: rs121434256
rs121434256 		0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.710 1.000 5 1998 2012
dbSNP: rs386833673
rs386833673 		1.000 0.080 21 44297727 stop lost A/T snv 8.0E-06 7.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 4 1998 2008
dbSNP: rs786204478
rs786204478 		1.000 0.080 21 44287135 splice donor variant T/C snv 1.2E-05 7.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 4 1998 2006
dbSNP: rs786204567
rs786204567 		1.000 0.080 21 44293141 frameshift variant -/C delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 4 2000 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: rs1555872988
rs1555872988 		1.000 0.080 21 44293089 frameshift variant C/- delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 3 2000 2015
dbSNP: rs878081
rs878081 		0.882 0.200 21 44288394 synonymous variant C/T snv 0.21 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 0.667 3 2013 2019
dbSNP: rs1057517241
rs1057517241 		1.000 0.080 21 44287570 stop gained C/T snv
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 2000
dbSNP: rs138489664
rs138489664 		1.000 0.080 21 44289803 splice donor variant G/A;C;T snv 2.8E-05; 8.1E-06; 4.0E-06; 4.0E-06
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: rs1555872272
rs1555872272 		1.000 0.080 21 44288460 splice donor 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 1.000 2 2001 2015
dbSNP: rs1555872755
rs1555872755 		1.000 0.080 21 44291146 frameshift variant T/- del
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 2 2002 2006
dbSNP: rs199612115
rs199612115 		1.000 0.080 21 44288459 splice donor variant G/T snv 9.6E-05 4.2E-05
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: 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: rs386833672
rs386833672 		1.000 0.080 21 44293060 frameshift variant -/A ins 6.0E-05 7.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 2 2002 2007