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: rs3118469
rs3118469 		10 6059166 intron variant A/T snv 0.24
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3118471
rs3118471 		0.827 0.120 10 6060794 intron variant A/G snv 0.24
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue 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: rs3118471
rs3118471 		0.827 0.120 10 6060794 intron variant A/G snv 0.24
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		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: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3134883
rs3134883 		1.000 0.040 10 6058762 intron variant G/A snv 0.23
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4747846
rs4747846 		10 6032488 intron variant G/A;C;T snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs61839660
rs61839660 		0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 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: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
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
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
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: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.700 1.000 1 2015 2015
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