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: 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: rs12722496
rs12722496 		0.925 0.160 10 6054704 intron variant A/G snv 7.5E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12722498
rs12722498 		0.882 0.080 10 6053873 intron variant A/G snv 4.3E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12722498
rs12722498 		0.882 0.080 10 6053873 intron variant A/G snv 4.3E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12722498
rs12722498 		0.882 0.080 10 6053873 intron variant A/G snv 4.3E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12722502
rs12722502 		0.882 0.080 10 6051176 intron variant C/T snv 7.8E-03
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs12722502
rs12722502 		0.882 0.080 10 6051176 intron variant C/T snv 7.8E-03
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		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: rs12722502
rs12722502 		0.882 0.080 10 6051176 intron variant C/T snv 7.8E-03
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12722515
rs12722515 		1.000 0.040 10 6039267 intron variant C/A snv 0.13
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 2 2012 2015
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: rs12722547
rs12722547 		10 6030130 intron variant G/C snv 7.8E-03
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12722561
rs12722561 		1.000 0.080 10 6027930 intron variant C/A;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12722605
rs12722605 		10 6011200 3 prime UTR variant T/A snv 0.11
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1570538
rs1570538 		1.000 0.080 10 6011605 3 prime UTR variant C/T snv 0.42
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17149458
rs17149458 		10 6059897 intron variant T/A snv 1.6E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.900 1.000 14 2007 2019
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: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.830 1.000 5 2012 2015
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 0.500 2 2009 2015
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015