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: 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: rs2233409
rs2233409 		1.000 0.080 14 35405064 upstream gene variant G/A snv 0.19
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs2233409
rs2233409 		1.000 0.080 14 35405064 upstream gene variant G/A snv 0.19
CUI: C0035235
Disease: Respiratory Syncytial Virus Infections
Respiratory Syncytial Virus Infections 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs2233409
rs2233409 		1.000 0.080 14 35405064 upstream gene variant G/A snv 0.19
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: rs2233417
rs2233417 		1.000 0.080 14 35402888 intron variant C/T snv 0.14 0.13
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: rs2273650
rs2273650 		1.000 0.040 14 35401592 3 prime UTR variant C/T snv 1.3E-02
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
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: 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: 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: 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: rs2233408
rs2233408 		0.925 0.080 14 35405286 upstream gene variant G/A;C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2233408
rs2233408 		0.925 0.080 14 35405286 upstream gene variant G/A;C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs28933100
rs28933100 		0.925 0.120 14 35404550 missense variant C/A;T snv
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs8904
rs8904 		0.925 0.120 14 35402011 3 prime UTR variant G/A;C;T snv 0.39; 4.0E-06
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs8904
rs8904 		0.925 0.120 14 35402011 3 prime UTR variant G/A;C;T snv 0.39; 4.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs8904
rs8904 		0.925 0.120 14 35402011 3 prime UTR variant G/A;C;T snv 0.39; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009
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