IKZF3, IKAROS family zinc finger 3, 22806

N. diseases: 64; N. variants: 24
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: rs907092
rs907092 		0.925 0.080 17 39766006 synonymous variant G/A snv 0.41 0.36
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 5 2010 2019
dbSNP: rs9303277
rs9303277 		0.790 0.240 17 39820216 intron variant C/T snv 0.52
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 5 2010 2017
dbSNP: rs9303277
rs9303277 		0.790 0.240 17 39820216 intron variant C/T snv 0.52
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.720 1.000 4 2010 2017
dbSNP: rs3816470
rs3816470 		0.925 0.160 17 39829548 intron variant A/G snv 0.54
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.710 1.000 2 2011 2015
dbSNP: rs2941509
rs2941509 		0.925 0.160 17 39764941 3 prime UTR variant T/C snv 0.91
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2019
dbSNP: rs907091
rs907091 		0.851 0.280 17 39765489 3 prime UTR variant C/T snv 0.47
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2012 2012
dbSNP: rs9303277
rs9303277 		0.790 0.240 17 39820216 intron variant C/T snv 0.52
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2010 2012
dbSNP: rs10445308
rs10445308 		0.851 0.240 17 39781794 intron variant C/T snv 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10445308
rs10445308 		0.851 0.240 17 39781794 intron variant C/T snv 0.38
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs10445308
rs10445308 		0.851 0.240 17 39781794 intron variant C/T snv 0.38
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs10445308
rs10445308 		0.851 0.240 17 39781794 intron variant C/T snv 0.38
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10445308
rs10445308 		0.851 0.240 17 39781794 intron variant C/T snv 0.38
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12450323
rs12450323 		0.925 0.120 17 39816455 intron variant G/T snv 0.18
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12450323
rs12450323 		0.925 0.120 17 39816455 intron variant G/T snv 0.18
CUI: C0018621
Disease: Hay fever
Hay fever 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12943633
rs12943633 		17 39814112 intron variant C/T snv 0.13
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs13313564
rs13313564 		17 39799302 intron variant G/A;T snv 5.9E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs143123127
rs143123127 		1.000 0.080 17 39850937 intron variant G/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs143669790
rs143669790 		17 39829526 intron variant G/A snv 1.8E-02 1.9E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs188353899
rs188353899 		17 39863603 intron variant G/T snv 9.2E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2060941
rs2060941 		1.000 0.120 17 39826630 intron variant G/T snv 0.10
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2313430
rs2313430 		0.925 0.160 17 39773563 intron variant T/C snv 0.48
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2313430
rs2313430 		0.925 0.160 17 39773563 intron variant T/C snv 0.48
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2941509
rs2941509 		0.925 0.160 17 39764941 3 prime UTR variant T/C snv 0.91
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: rs34233420
rs34233420 		17 39848677 intron variant ATTT/- delins
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3816470
rs3816470 		0.925 0.160 17 39829548 intron variant A/G snv 0.54
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013