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: 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: 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: 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: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs791589
rs791589 		1.000 0.080 10 6047608 intron variant G/A snv 0.71
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
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: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
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: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2010 2010
dbSNP: rs706778
rs706778 		0.695 0.320 10 6056986 intron variant C/T snv 0.46
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
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: 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: 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: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2104286
rs2104286 		0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0042164
Disease: Uveitis
Uveitis 		Eye Diseases 0.010 1.000 1 2011 2011
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: 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: 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: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011