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: rs10795763
rs10795763 		0.925 0.120 10 6054236 intron variant G/T snv 0.45
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs10795763
rs10795763 		0.925 0.120 10 6054236 intron variant G/T snv 0.45
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: rs1107345
rs1107345 		0.925 0.160 10 6045332 intron variant G/T snv 0.18
CUI: C1367654
Disease: Marginal Zone B-Cell Lymphoma
Marginal Zone B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1107345
rs1107345 		0.925 0.160 10 6045332 intron variant G/T snv 0.18
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11256497
rs11256497 		0.925 0.120 10 6045831 intron variant G/A snv 0.28
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11256497
rs11256497 		0.925 0.120 10 6045831 intron variant G/A snv 0.28
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: rs1191996028
rs1191996028 		1.000 0.080 10 6025978 missense variant C/T snv 4.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1216411295
rs1216411295 		1.000 0.120 10 6025837 missense variant A/T snv 4.0E-06
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs12253981
rs12253981 		1.000 0.080 10 6050383 intron variant T/G snv 0.29
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12569923
rs12569923 		0.882 0.080 10 6042690 intron variant C/G;T snv
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: rs12569923
rs12569923 		0.882 0.080 10 6042690 intron variant C/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12569923
rs12569923 		0.882 0.080 10 6042690 intron variant C/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
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: 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: rs12722495
rs12722495 		0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2019
dbSNP: rs12722495
rs12722495 		0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
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: rs12722495
rs12722495 		0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12722495
rs12722495 		0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		Eye Diseases 0.010 1.000 1 2015 2015