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: rs12722605
rs12722605 		10 6011200 3 prime UTR variant T/A snv 0.11
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1570538
rs1570538 		1.000 0.080 10 6011605 3 prime UTR variant C/T snv 0.42
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: 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: 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: rs12722561
rs12722561 		1.000 0.080 10 6027930 intron variant C/A;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12722547
rs12722547 		10 6030130 intron variant G/C snv 7.8E-03
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
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: 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: rs12722515
rs12722515 		1.000 0.040 10 6039267 intron variant C/A snv 0.13
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs12722515
rs12722515 		1.000 0.040 10 6039267 intron variant C/A snv 0.13
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
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: 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: 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