IL2RA, interleukin 2 receptor subunit alpha, 3559

N. diseases: 540; N. variants: 43
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: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs12722489
rs12722489 		0.882 0.160 10 6060049 intron variant C/T snv 0.11
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs12722515
rs12722515 		1.000 0.040 10 6039267 intron variant C/A snv 0.13
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3118471
rs3118471 		0.827 0.120 10 6060794 intron variant A/G snv 0.24
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3118470
rs3118470 		0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.070 1.000 7 2007 2017
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.060 0.833 6 2009 2019
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.750 1.000 6 2007 2015
dbSNP: rs12722495
rs12722495 		0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2019
dbSNP: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs12722496
rs12722496 		0.925 0.160 10 6054704 intron variant A/G snv 7.5E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7093069
rs7093069 		1.000 0.120 10 6021356 intron variant C/T snv 0.18
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12722502
rs12722502 		0.882 0.080 10 6051176 intron variant C/T snv 7.8E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs3118470
rs3118470 		0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs706779
rs706779 		0.827 0.160 10 6056861 intron variant T/C snv 0.48
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs706779
rs706779 		0.827 0.160 10 6056861 intron variant T/C snv 0.48
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12722486
rs12722486 		1.000 10 6061799 intron variant C/A;T snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2014 2014
dbSNP: rs12722486
rs12722486 		1.000 10 6061799 intron variant C/A;T snv
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2014 2014
dbSNP: rs7893467
rs7893467 		1.000 0.040 10 6037072 intron variant G/C;T snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011