IL4, interleukin 4, 3565

N. diseases: 996; N. variants: 23
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: rs79908535
rs79908535 		0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2000 2008
dbSNP: rs2227284
rs2227284 		0.732 0.480 5 132677033 intron variant T/C;G snv
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs4986964
rs4986964 		1.000 0.080 5 132674129 missense variant T/C snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1440526066
rs1440526066 		1.000 0.040 5 132679827 missense variant G/A snv
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2243250
rs2243250 		0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.030 0.667 3 2007 2019
dbSNP: rs2243248
rs2243248 		0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 1.000 2 2007 2015
dbSNP: rs1196477957
rs1196477957 		1.000 0.080 5 132679782 missense variant G/A snv 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs146713238
rs146713238 		1.000 0.120 5 132679861 missense variant G/A snv 3.2E-05 8.4E-05
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs202011365
rs202011365 		0.925 0.080 5 132679748 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs202011365
rs202011365 		0.925 0.080 5 132679748 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs2070874
rs2070874 		0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28
CUI: C0030824
Disease: Allergy to penicillin
Allergy to penicillin 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2243250
rs2243250 		0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs79908535
rs79908535 		0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs79908535
rs79908535 		0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1220579705
rs1220579705 		1.000 0.080 5 132674079 missense variant C/T snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2243267
rs2243267 		0.882 0.160 5 132678194 intron variant G/A;C snv
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs2243268
rs2243268 		0.882 0.040 5 132678271 intron variant A/C snv 0.23
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs2243282
rs2243282 		1.000 0.040 5 132680862 intron variant C/A;T snv
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs2243250
rs2243250 		0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2017
dbSNP: rs2243250
rs2243250 		0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2017
dbSNP: rs2227284
rs2227284 		0.732 0.480 5 132677033 intron variant T/C;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2227284
rs2227284 		0.732 0.480 5 132677033 intron variant T/C;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2243250
rs2243250 		0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2243274
rs2243274 		0.882 0.080 5 132679140 intron variant G/A snv 0.34
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2070874
rs2070874 		0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.050 1.000 5 2011 2016