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: 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: 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: 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
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: rs570613
rs570613 		0.925 0.080 10 8064539 intron variant C/T snv 0.60
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs570613
rs570613 		0.925 0.080 10 8064539 intron variant C/T snv 0.60
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs570613
rs570613 		0.925 0.080 10 8064539 intron variant C/T snv 0.60
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs7087058
rs7087058 		1.000 0.080 10 8072959 intron variant A/G snv 0.18
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs112417755
rs112417755 		1.000 0.080 10 8073738 splice acceptor variant G/C;T snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: 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: 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: rs1269486
rs1269486 		0.925 0.120 10 8054236 intron variant A/G snv 0.77
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1269486
rs1269486 		0.925 0.120 10 8054236 intron variant A/G snv 0.77
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
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: 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