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: 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: 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: 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: rs2275806
rs2275806 		1.000 0.120 10 8053377 non coding transcript exon variant G/A snv 0.44
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2012 2012
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: rs3802604
rs3802604 		0.882 0.200 10 8060309 intron variant G/A snv 0.51
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 1 2019 2019
dbSNP: rs4143094
rs4143094 		0.752 0.240 10 8047173 intron variant T/G snv 0.70
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2014 2014
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: 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: 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: 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
dbSNP: rs1244181
rs1244181 		0.925 0.080 10 8049414 intron variant A/C;G snv
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.700 1.000 1 2016 2016
dbSNP: rs1244186
rs1244186 		1.000 0.120 10 8050720 non coding transcript exon variant T/A;C snv
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3781093
rs3781093 		0.882 0.120 10 8059964 intron variant T/C snv 0.19
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3781093
rs3781093 		0.882 0.120 10 8059964 intron variant T/C snv 0.19
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3781093
rs3781093 		0.882 0.120 10 8059964 intron variant T/C snv 0.19
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3781094
rs3781094 		1.000 0.120 10 8059464 intron variant A/C snv 0.52
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3781094
rs3781094 		1.000 0.120 10 8059464 intron variant A/C snv 0.52
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3802597
rs3802597 		10 8072425 intron variant A/G snv 0.44
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs4143094
rs4143094 		0.752 0.240 10 8047173 intron variant T/G snv 0.70
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs4143094
rs4143094 		0.752 0.240 10 8047173 intron variant T/G snv 0.70
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2014 2014