Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1241312324
rs1241312324
CUI: C0003873
Disease: Rheumatoid Arthritis
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
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: rs4648022
rs4648022
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE In gene-level analysis of the NF-kappaB pathway, only NFKB1 showed a statistically significant association with NHL (P = 0.049), and one NFKB1 tagSNP (rs4648022) was associated with NHL risk overall (ordinal OR, 0.59; 95% CI, 0.41-0.84; Ptrend = 0.0037) and for each of the common subtypes. 18990758

2008

dbSNP: rs28362491
rs28362491
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
0.010 GeneticVariation BEFREE The aim of this study was to determine whether the functional NFKB1 -94 insertion/deletion ATTG polymorphism (rs28362491) is associated with cervical squamous cell carcinoma (CSCC). 19892748

2010

dbSNP: rs4648110
rs4648110
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 GeneticVariation BEFREE The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined genotype association across IKBKB SNP rs5029748 (1 or 2 variant alleles), IL6 rs1800797 (1 or 2 variant alleles), and NFKB1 rs4648110 (2 variant alleles) which conferred an ~80% decreased risk of colon cancer. 21129206

2010

dbSNP: rs4648110
rs4648110
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined genotype association across IKBKB SNP rs5029748 (1 or 2 variant alleles), IL6 rs1800797 (1 or 2 variant alleles), and NFKB1 rs4648110 (2 variant alleles) which conferred an ~80% decreased risk of colon cancer. 21129206

2010

dbSNP: rs28362491
rs28362491
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.020 GeneticVariation BEFREE Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. 21245992

2011

dbSNP: rs4648004
rs4648004
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation BEFREE Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs230521, rs1005819 and rs1609798 (intronic, NFKB1) with APOB; rs5361 (Missense, R greatr than S, SELE) and rs4648004 (Intronic, NFKB1) with FBG; rs4220 (Missense, K greater than R, FGB) with HCY; and rs3025035 (Intronic, VEGFA) with CHOL-H. SNPs in SELE, VEGFA, FGB and NFKB1 genes impact significantly on levels of quantitative precursors of CAD in Marwaris. 22116284

2011

dbSNP: rs230521
rs230521
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation BEFREE Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs230521, rs1005819 and rs1609798 (intronic, NFKB1) with APOB; rs5361 (Missense, R greatr than S, SELE) and rs4648004 (Intronic, NFKB1) with FBG; rs4220 (Missense, K greater than R, FGB) with HCY; and rs3025035 (Intronic, VEGFA) with CHOL-H. SNPs in SELE, VEGFA, FGB and NFKB1 genes impact significantly on levels of quantitative precursors of CAD in Marwaris. 22116284

2011

dbSNP: rs1609798
rs1609798
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation BEFREE Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs230521, rs1005819 and rs1609798 (intronic, NFKB1) with APOB; rs5361 (Missense, R greatr than S, SELE) and rs4648004 (Intronic, NFKB1) with FBG; rs4220 (Missense, K greater than R, FGB) with HCY; and rs3025035 (Intronic, VEGFA) with CHOL-H. SNPs in SELE, VEGFA, FGB and NFKB1 genes impact significantly on levels of quantitative precursors of CAD in Marwaris. 22116284

2011

dbSNP: rs28362491
rs28362491
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 GeneticVariation BEFREE Recently, a common insertion/deletion (-94insertion/deletion ATTG, rs28362491) polymorphism in the NFkappaB1 promoter region has been extensively investigated for association with cancer risk but the results have been inconsistent. 22320942

2011

dbSNP: rs28362491
rs28362491
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Recently, a common insertion/deletion (-94insertion/deletion ATTG, rs28362491) polymorphism in the NFkappaB1 promoter region has been extensively investigated for association with cancer risk but the results have been inconsistent. 22320942

2011

dbSNP: rs3774964
rs3774964
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE However, a significant combined effect of rs3774959 and rs3774964 in the NFKB1 gene with rs2228991 in the REST gene on CRC risk was observed. 22530801

2012

dbSNP: rs3774959
rs3774959
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE However, a significant combined effect of rs3774959 and rs3774964 in the NFKB1 gene with rs2228991 in the REST gene on CRC risk was observed. 22530801

2012

dbSNP: rs28362491
rs28362491
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 GeneticVariation BEFREE NFKB1-94ATTG ins/del polymorphism (rs28362491) is associated with cardiovascular disease in patients with rheumatoid arthritis. 22742859

2012

dbSNP: rs28362491
rs28362491
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation BEFREE NFKB1-94ATTG ins/del polymorphism (rs28362491) is associated with cardiovascular disease in patients with rheumatoid arthritis. 22742859

2012

dbSNP: rs4648068
rs4648068
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.030 GeneticVariation BEFREE Homozygous rs4648068 GG was associated with an increased risk of gastric cancer, especially for the lymph node status and serosa invasion in Han Chinese population. 22776619

2012

dbSNP: rs4648068
rs4648068
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.030 GeneticVariation BEFREE Homozygous rs4648068 GG was associated with an increased risk of gastric cancer, especially for the lymph node status and serosa invasion in Han Chinese population. 22776619

2012

dbSNP: rs4648068
rs4648068
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 GeneticVariation BEFREE Homozygous rs4648068 GG was associated with an increased risk of gastric cancer, especially for the lymph node status and serosa invasion in Han Chinese population. 22776619

2012

dbSNP: rs4648068
rs4648068
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE However, rs4648068 genotypes were not associated with tumor differentiation in gastric cancer patients. 22776619

2012

dbSNP: rs4648127
rs4648127
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation BEFREE However, after adjusting for multiple comparisons, the only SNP that retained a significant association with lung cancer in the replication phase was reference SNP rs4648127 (nuclear factor of kappa light polypeptide gene enhancer of B-cells 1 [NFKB1]) (multiple testing-adjusted P(trend) = .02). 23044494

2012

dbSNP: rs4648127
rs4648127
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE However, after adjusting for multiple comparisons, the only SNP that retained a significant association with lung cancer in the replication phase was reference SNP rs4648127 (nuclear factor of kappa light polypeptide gene enhancer of B-cells 1 [NFKB1]) (multiple testing-adjusted P(trend) = .02). 23044494

2012

dbSNP: rs4648127
rs4648127
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE However, after adjusting for multiple comparisons, the only SNP that retained a significant association with lung cancer in the replication phase was reference SNP rs4648127 (nuclear factor of kappa light polypeptide gene enhancer of B-cells 1 [NFKB1]) (multiple testing-adjusted P(trend) = .02). 23044494

2012

dbSNP: rs28362491
rs28362491
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE This study aimed to clarify the influence of a common insertion/deletion polymorphism (-94 ins/del ATTG, rs28362491) in the NFKB1 promoter on RCC susceptibility. 23295440

2013

dbSNP: rs28362491
rs28362491
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 GeneticVariation BEFREE This study aimed to clarify the influence of a common insertion/deletion polymorphism (-94 ins/del ATTG, rs28362491) in the NFKB1 promoter on RCC susceptibility. 23295440

2013