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: rs9663421
rs9663421 		1.000 0.080 10 6013641 intron variant C/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs886041038
rs886041038 		1.000 0.040 10 6019462 frameshift variant -/T delins
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		Immune System Diseases 0.700 0
dbSNP: rs886041037
rs886041037 		1.000 0.040 10 6024310 stop gained G/A snv
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		Immune System Diseases 0.700 0
dbSNP: rs886041032
rs886041032 		1.000 0.040 10 6062087 splice donor variant CCTG/- delins
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		Immune System Diseases 0.700 0
dbSNP: rs796051888
rs796051888 		1.000 0.040 10 6025968 missense variant T/G snv
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		Immune System Diseases 0.800 0
dbSNP: rs796051887
rs796051887 		1.000 0.040 10 6021564 missense variant C/T snv
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		Immune System Diseases 0.800 0
dbSNP: rs791589
rs791589 		1.000 0.080 10 6047608 intron variant G/A snv 0.71
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs791588
rs791588 		0.851 0.200 10 6047379 intron variant G/T snv 0.40
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: rs791588
rs791588 		0.851 0.200 10 6047379 intron variant G/T snv 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs791588
rs791588 		0.851 0.200 10 6047379 intron variant G/T snv 0.40
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs791588
rs791588 		0.851 0.200 10 6047379 intron variant G/T snv 0.40
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs791587
rs791587 		0.925 0.120 10 6046736 intron variant A/G snv 0.51
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs791587
rs791587 		0.925 0.120 10 6046736 intron variant A/G snv 0.51
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs7909519
rs7909519 		0.807 0.120 10 6047878 intron variant T/G snv 7.2E-02
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7909519
rs7909519 		0.807 0.120 10 6047878 intron variant T/G snv 7.2E-02
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7909519
rs7909519 		0.807 0.120 10 6047878 intron variant T/G snv 7.2E-02
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs7909519
rs7909519 		0.807 0.120 10 6047878 intron variant T/G snv 7.2E-02
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7909519
rs7909519 		0.807 0.120 10 6047878 intron variant T/G snv 7.2E-02
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7909519
rs7909519 		0.807 0.120 10 6047878 intron variant T/G snv 7.2E-02
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
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: 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: rs7090504
rs7090504 		10 6049054 intron variant T/A snv 0.16
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7072793
rs7072793 		0.925 0.080 10 6064303 upstream gene variant T/C snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7072793
rs7072793 		0.925 0.080 10 6064303 upstream gene variant T/C snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs706779
rs706779 		0.827 0.160 10 6056861 intron variant T/C snv 0.48
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.810 1.000 5 2010 2016