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: rs28933100
rs28933100 		0.925 0.120 14 35404550 missense variant C/A;T snv
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 2 2003 2008
dbSNP: rs8904
rs8904 		0.925 0.120 14 35402011 3 prime UTR variant G/A;C;T snv 0.39; 4.0E-06
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 4 2017 2019
dbSNP: rs696
rs696 		0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs696
rs696 		0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs696
rs696 		0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs121913664
rs121913664 		1.000 0.120 14 35404613 stop gained C/T snv
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs121913665
rs121913665 		1.000 0.120 14 35404605 stop gained C/A snv
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs1566591073
rs1566591073 		1.000 0.120 14 35404535 missense variant A/C;T snv
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs1566591076
rs1566591076 		1.000 0.120 14 35404538 missense variant G/T snv
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs1566591082
rs1566591082 		1.000 0.120 14 35404549 missense variant G/C snv
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs1566591086
rs1566591086 		1.000 0.120 14 35404551 missense variant T/C snv
CUI: C2677481
Disease: Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs1050851
rs1050851 		1.000 0.080 14 35403720 synonymous variant G/A snv 0.17 0.15
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17103265
rs17103265 		0.925 0.080 14 35405503 upstream gene variant A/- delins
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs17103265
rs17103265 		0.925 0.080 14 35405503 upstream gene variant A/- delins
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs17103265
rs17103265 		0.925 0.080 14 35405503 upstream gene variant A/- delins
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
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: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A 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: rs2233406
rs2233406 		0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 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: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
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