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: 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: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 3 2010 2019
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2476491
rs2476491 		0.776 0.240 10 6053447 intron variant A/T snv 0.25
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: rs2476491
rs2476491 		0.776 0.240 10 6053447 intron variant A/T snv 0.25
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: rs2476491
rs2476491 		0.776 0.240 10 6053447 intron variant A/T snv 0.25
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: rs2476491
rs2476491 		0.776 0.240 10 6053447 intron variant A/T snv 0.25
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: rs2476491
rs2476491 		0.776 0.240 10 6053447 intron variant A/T snv 0.25
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2476491
rs2476491 		0.776 0.240 10 6053447 intron variant A/T snv 0.25
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: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
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: 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: 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: 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: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune 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: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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
dbSNP: rs3118470
rs3118470 		0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		Skin and Connective Tissue Diseases 0.800 1.000 2 2010 2015
dbSNP: rs12722495
rs12722495 		0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016