NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19
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: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		Infections 0.010 1.000 1 2007 2007
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		Infections 0.010 1.000 1 2007 2007
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3138053
rs3138053 		0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1957106
rs1957106 		0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1957106
rs1957106 		0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1957106
rs1957106 		0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1957106
rs1957106 		0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2233407
rs2233407 		0.882 0.080 14 35405317 upstream gene variant T/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2233407
rs2233407 		0.882 0.080 14 35405317 upstream gene variant T/A;C snv
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010