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
dbSNP: rs1032171597
rs1032171597 		1.000 0.080 21 44287515 splice acceptor variant A/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: 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
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: rs1057516314
rs1057516314 		1.000 0.080 21 44287127 frameshift variant AG/C delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057516411
rs1057516411 		1.000 0.080 21 44293013 frameshift variant GG/- del
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
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: rs1057516811
rs1057516811 		1.000 0.080 21 44296446 splice donor variant -/T delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057516985
rs1057516985 		1.000 0.080 21 44296447 splice donor variant T/A snv 7.0E-06
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057517011
rs1057517011 		1.000 0.080 21 44291191 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 0
dbSNP: rs1057517072
rs1057517072 		1.000 0.080 21 44294474 frameshift variant CGCC/- delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057517254
rs1057517254 		1.000 0.080 21 44292390 frameshift variant G/- del
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057517268
rs1057517268 		1.000 0.080 21 44289997 frameshift variant AG/- delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057517428
rs1057517428 		1.000 0.080 21 44286684 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 0
dbSNP: rs142788946
rs142788946 		1.000 0.080 21 44287012 missense variant G/T snv 1.9E-04; 4.1E-06 2.3E-04
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1488613451
rs1488613451 		1.000 0.080 21 44287522 stop gained C/T snv 6.2E-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 0
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: rs1555871902
rs1555871902 		1.000 0.080 21 44286692 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: rs1555872060
rs1555872060 		1.000 0.080 21 44287560 frameshift variant -/AGCAG delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555872879
rs1555872879 		1.000 0.080 21 44292368 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 0
dbSNP: rs1555872997
rs1555872997 		1.000 0.080 21 44293104 frameshift variant -/AGCCC delins
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555873087
rs1555873087 		1.000 0.080 21 44293787 splice acceptor variant A/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: rs1555873248
rs1555873248 		1.000 0.080 21 44294465 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 0
dbSNP: rs1568928525
rs1568928525 		1.000 0.080 21 44291172 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 0
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