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: 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: 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: 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: rs12722486
rs12722486 		1.000 10 6061799 intron variant C/A;T snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2014 2014
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: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2014 2014
dbSNP: rs12722486
rs12722486 		1.000 10 6061799 intron variant C/A;T snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.700 1.000 1 2014 2014
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: rs12722489
rs12722489 		0.882 0.160 10 6060049 intron variant C/T snv 0.11
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.850 1.000 7 2007 2018
dbSNP: rs12722489
rs12722489 		0.882 0.160 10 6060049 intron variant C/T snv 0.11
CUI: C0042164
Disease: Uveitis
Uveitis 		Eye Diseases 0.010 < 0.001 1 2011 2011
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: 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: 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: 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: rs3118470
rs3118470 		0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2010 2010
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: rs3118470
rs3118470 		0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
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: rs3118470
rs3118470 		0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs3118470
rs3118470 		0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013