rs28933100
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
0.800
GeneticVariation
UNIPROT
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
18412279
2008
rs28933100
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
0.800
GeneticVariation
UNIPROT
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
14523047
2003
rs28933100
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T
0.800
CausalMutation
CLINVAR
rs28933100
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
A
0.800
CausalMutation
CLINVAR
rs696
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
White Blood Cell Count procedure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs696
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Cardiovascular Diseases
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs8904
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Systolic Pressure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs8904
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Systolic Pressure
A
0.700
GeneticVariation
GWASCAT
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
30578418
2019
rs8904
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Systolic Pressure
G
0.700
GeneticVariation
GWASCAT
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
27841878
2017
rs8904
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Systolic Pressure
A
0.700
GeneticVariation
GWASCAT
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
28739976
2017
rs696
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Lymphocyte Count measurement
T
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs121913664
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T
0.700
CausalMutation
CLINVAR
rs121913665
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
A
0.700
CausalMutation
CLINVAR
rs1566591073
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T
0.700
CausalMutation
CLINVAR
rs1566591073
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
C
0.700
CausalMutation
CLINVAR
rs1566591076
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
T
0.700
CausalMutation
CLINVAR
rs1566591082
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
C
0.700
CausalMutation
CLINVAR
rs1566591086
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
C
0.700
CausalMutation
CLINVAR
rs8904
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Squamous cell carcinoma of esophagus
0.010
GeneticVariation
BEFREE
A case-control study including 494 ESCC patients and 494 controls was carried out to investigate the genetic susceptibility of 4 microRNA-binding site SNPs (rs712 in the binding site of KRAS to let-7, rs8904 in the binding site of NFBIA to mir-507, rs3738894 in the binding site of protein kinase C epsilon to mir-218, rs701848 in the binding site of phosphatase and tensin to mir-1304) as well as the interactions of gene-environment in the development of ESCC .
31269493
2020
rs2233406
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Malignant Head and Neck Neoplasm
0.010
GeneticVariation
BEFREE
Additionally, our results showed that no association was discovered between rs2233406 polymorphism and HNC s.
31612070
2019
rs2233406
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Head and Neck Carcinoma
0.010
GeneticVariation
BEFREE
Additionally, our results showed that no association was discovered between rs2233406 polymorphism and HNC s.
31612070
2019
rs696
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Autoimmune Diseases
0.010
GeneticVariation
BEFREE
Since interleukin-1 receptor-associated kinase (IRAK-1)/nuclear factor-kappa B (NF-kappa B) pathway plays an essential role in the pathogenesis of autoimmune diseases , the aim of the present study was to explore the role of polymorphisms in three genes, named IRAK1 (rs3027898), NFKBIA (rs696 ) and NFKB1 (-94ATTG insertion/deletion variant, - rs28362491), in PV susceptibility.
31077459
2019
rs2233406
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Hepatitis B
0.010
GeneticVariation
BEFREE
Unconditional logistic regression revealed that carriers of the TT genotype at rs2233406 had a greater risk (OR = 5.57, 95% CI = 2.14-14.52) of chronic HBV infection progression.
29093318
2018
rs2233406
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Kidney Failure, Acute
0.010
GeneticVariation
BEFREE
In conclusion, <i>NFKB1</i> rs28362491, <i>NFKBIA</i> rs2233406 and <i>NFKBIA</i> rs696 polymorphisms may serve as biomarkers for predicting risk of AKI in children.
30429237
2018
rs2273650
×
Entrez Id:
4792
Gene Symbol:
NFKBIA
NFKBIA
Osteoarthritis of the hand
0.010
GeneticVariation
BEFREE
Two significant SNPs, rs11096957 (OR = 1.26, P = 1.35 × 10<sup>-5</sup>) and rs2273650 (OR = 1.2, P = 1.57 × 10<sup>-3</sup>), were significantly associated with HOA risk.
29980729
2018