GATA3, GATA binding protein 3, 2625

N. diseases: 429; N. variants: 30
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: rs3824662
rs3824662 		0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C4054188
Disease: Ph-Like Acute Lymphoblastic Leukemia
Ph-Like Acute Lymphoblastic Leukemia 		0.040 1.000 4 2013 2019
dbSNP: rs104894163
rs104894163 		1.000 0.240 10 8064037 missense variant T/A snv
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2000 2015
dbSNP: rs3824662
rs3824662 		0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2013 2017
dbSNP: rs3824662
rs3824662 		0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2013 2018
dbSNP: rs3824660
rs3824660 		1.000 0.120 10 8062759 intron variant C/T snv 0.49
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2014 2019
dbSNP: rs3824662
rs3824662 		0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2017
dbSNP: rs3824662
rs3824662 		0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		0.020 1.000 2 2013 2015
dbSNP: rs3824662
rs3824662 		0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2013 2017
dbSNP: rs3824662
rs3824662 		0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2013 2015
dbSNP: rs501764
rs501764 		1.000 0.120 10 8051071 non coding transcript exon variant G/T snv 0.87 0.86
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2010 2013
dbSNP: rs570613
rs570613 		0.925 0.080 10 8064539 intron variant C/T snv 0.60
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2009
dbSNP: rs570613
rs570613 		0.925 0.080 10 8064539 intron variant C/T snv 0.60
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2009
dbSNP: rs104894164
rs104894164 		1.000 0.240 10 8073787 stop gained C/T snv
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2020 2020
dbSNP: rs104894165
rs104894165 		0.925 0.240 10 8073747 missense variant A/G;T snv 4.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1058240
rs1058240 		0.925 0.160 10 8074635 3 prime UTR variant G/A snv 0.81
CUI: C0035455
Disease: Rhinitis
Rhinitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1058240
rs1058240 		0.925 0.160 10 8074635 3 prime UTR variant G/A snv 0.81
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10905284
rs10905284 		0.882 0.200 10 8073399 intron variant C/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs10905284
rs10905284 		0.882 0.200 10 8073399 intron variant C/A;T snv
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10905284
rs10905284 		0.882 0.200 10 8073399 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: rs10905284
rs10905284 		0.882 0.200 10 8073399 intron variant C/A;T snv
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs11255504
rs11255504 		0.925 0.080 10 8062378 intron variant A/G;T snv
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
dbSNP: rs11255504
rs11255504 		0.925 0.080 10 8062378 intron variant A/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1211413464
rs1211413464 		0.925 0.080 10 8069546 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1211413464
rs1211413464 		0.925 0.080 10 8069546 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1244181
rs1244181 		0.925 0.080 10 8049414 intron variant A/C;G snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016