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: 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: 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: 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: 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: 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: 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: rs7090504
rs7090504 		10 6049054 intron variant T/A snv 0.16
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: 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: rs12722502
rs12722502 		0.882 0.080 10 6051176 intron variant C/T snv 7.8E-03
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
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: 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