NFKB1, nuclear factor kappa B subunit 1, 4790

N. diseases: 551; N. variants: 52
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1020760
rs1020760
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0033860
Disease:
Psoriasis
0.020 GeneticVariation BEFREE We confirmed four known psoriasis susceptibility loci (IL12B, IFIH1, ERAP1 and RNF114; 2.30 × 10(-20)≤P≤2.41 × 10(-7)) and identified three new susceptibility loci: 4q24 (NFKB1) at rs1020760 (P=2.19 × 10(-8)), 12p13.3 (CD27-LAG3) at rs758739 (P=4.08 × 10(-8)) and 17q12 (IKZF3) at rs10852936 (P=1.96 × 10(-8)). 25006012 2014
dbSNP: rs1020760
rs1020760
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0033860
Disease:
Psoriasis
0.020 GeneticVariation BEFREE A total of 9946 cases and 9906 controls with detailed clinical and demographic information were involved in this study, while the genotype data of rs1020760 was available in the previous targeted sequencing study of psoriasis. 27346731 2016
dbSNP: rs1020760
rs1020760
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0263361
Disease:
Psoriasis vulgaris
0.010 GeneticVariation BEFREE To investigate the potential association between rs1020760 and phenotypes of psoriasis vulgaris, we performed a genotype-phenotype analysis. 27346731 2016
dbSNP: rs113473633
rs113473633
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs113473633
rs113473633
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0020676
Disease:
Hypothyroidism
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs113473633
rs113473633
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0200638
Disease:
Eosinophil count procedure
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs113473633
rs113473633
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0200641
Disease:
Blood basophil count (lab test)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs113473633
rs113473633
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1241312324
rs1241312324
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Their peripheral blood mononuclear cells (PBMC) had increased basal NF-kappaB activation compared with healthy controls and also had increased p50 nuclear expression following tumour necrosis factor (TNF) stimulation compared with PBMC from healthy controls, as well as T50M (T79M) and C88R (C117R) patients with TRAPS and patients with rheumatoid arthritis (RA). 18086728 2008
dbSNP: rs1241312324
rs1241312324
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.010 GeneticVariation BEFREE Their peripheral blood mononuclear cells (PBMC) had increased basal NF-kappaB activation compared with healthy controls and also had increased p50 nuclear expression following tumour necrosis factor (TNF) stimulation compared with PBMC from healthy controls, as well as T50M (T79M) and C88R (C117R) patients with TRAPS and patients with rheumatoid arthritis (RA). 18086728 2008
dbSNP: rs12509403
rs12509403
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C2607914
Disease:
Allergic rhinitis (disorder)
C 0.700 GeneticVariation GWASCAT Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. 30013184 2018
dbSNP: rs13117745
rs13117745
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE No association with lung cancer risk was detected for individual htSNP in four genetic models, but the haplotype consisting of the wild-type alleles of rs3774934(G), rs13117745(C), rs230541(A), and rs1801(G) was associated with lowered lung cancer risk after adjustment for smoking duration [OR (95% CI) = 0.71 (0.51-0.98), P = 0.036]. 25917613 2015
dbSNP: rs13117745
rs13117745
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE No association with lung cancer risk was detected for individual htSNP in four genetic models, but the haplotype consisting of the wild-type alleles of rs3774934(G), rs13117745(C), rs230541(A), and rs1801(G) was associated with lowered lung cancer risk after adjustment for smoking duration [OR (95% CI) = 0.71 (0.51-0.98), P = 0.036]. 25917613 2015
dbSNP: rs13117745
rs13117745
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE No association with lung cancer risk was detected for individual htSNP in four genetic models, but the haplotype consisting of the wild-type alleles of rs3774934(G), rs13117745(C), rs230541(A), and rs1801(G) was associated with lowered lung cancer risk after adjustment for smoking duration [OR (95% CI) = 0.71 (0.51-0.98), P = 0.036]. 25917613 2015
dbSNP: rs147574894
rs147574894
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE On the other hand, rs147574894 negatively correlated with histological type and grade, tumor size, Her2 positivity, molecular type, and ER+/Her2-, while rs148626207 correlated positively with histological grade, but negatively with distant metastasis and triple-negative status. 30027470 2019
dbSNP: rs147574894
rs147574894
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE On the other hand, rs147574894 negatively correlated with histological type and grade, tumor size, Her2 positivity, molecular type, and ER+/Her2-, while rs148626207 correlated positively with histological grade, but negatively with distant metastasis and triple-negative status. 30027470 2019
dbSNP: rs147574894
rs147574894
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Significant association of rs3774937 and rs147574894 genotypes with breast cancer was seen under the dominant model. 30027470 2019
dbSNP: rs147574894
rs147574894
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Significant association of rs3774937 and rs147574894 genotypes with breast cancer was seen under the dominant model. 30027470 2019
dbSNP: rs148626207
rs148626207
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE On the other hand, rs147574894 negatively correlated with histological type and grade, tumor size, Her2 positivity, molecular type, and ER+/Her2-, while rs148626207 correlated positively with histological grade, but negatively with distant metastasis and triple-negative status. 30027470 2019
dbSNP: rs151134704
rs151134704
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure)
0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs151134704
rs151134704
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0202239
Disease:
Uric acid measurement (procedure)
0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs151134704
rs151134704
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C0017654
Disease:
Glomerular Filtration Rate
0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs1560679469
rs1560679469
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C4225277
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 12
GA 0.700 GeneticVariation CLINVAR
dbSNP: rs1560711146
rs1560711146
Entrez Id: 4790;105377347
Gene Symbol: NFKB1;LOC105377347
NFKB1;LOC105377347
CUI: C4225277
Disease:
IMMUNODEFICIENCY, COMMON VARIABLE, 12
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1598856
rs1598856
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0008312
Disease:
Primary biliary cirrhosis
G 0.700 GeneticVariation GWASCAT A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. 28425483 2017