E2F1, E2F transcription factor 1, 1869

N. diseases: 324; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3213182
rs3213182
Entrez Id: 1869;63941
Gene Symbol: E2F1;NECAB3
E2F1;NECAB3
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE Although none of the selected SNPs alone was significantly associated with risk of SCCHN, there was a statistically significantly increased risk of SCCHN associated with the combined risk genotypes (i.e., rs3213182 AA, rs3213183 GG, rs3213180 GG, rs321318121 GG, rs2742976 GT+TT, rs6667575 GA+AA, rs3218203 CC, rs3218148 AA, rs3218211 CC, and rs3218123 GT+TT). 22344756 2012
dbSNP: rs3213183
rs3213183
Entrez Id: 1869;63941
Gene Symbol: E2F1;NECAB3
E2F1;NECAB3
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE Although none of the selected SNPs alone was significantly associated with risk of SCCHN, there was a statistically significantly increased risk of SCCHN associated with the combined risk genotypes (i.e., rs3213182 AA, rs3213183 GG, rs3213180 GG, rs321318121 GG, rs2742976 GT+TT, rs6667575 GA+AA, rs3218203 CC, rs3218148 AA, rs3218211 CC, and rs3218123 GT+TT). 22344756 2012
dbSNP: rs3213180
rs3213180
Entrez Id: 1869;63941
Gene Symbol: E2F1;NECAB3
E2F1;NECAB3
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE Although none of the selected SNPs alone was significantly associated with risk of SCCHN, there was a statistically significantly increased risk of SCCHN associated with the combined risk genotypes (i.e., rs3213182 AA, rs3213183 GG, rs3213180 GG, rs321318121 GG, rs2742976 GT+TT, rs6667575 GA+AA, rs3218203 CC, rs3218148 AA, rs3218211 CC, and rs3218123 GT+TT). 22344756 2012
dbSNP: rs864622017
rs864622017
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Based on the results, two compatible theories can be formed: R166H mutation appears to allow for protein over-expression while minimizing the apoptotic consequence and the R166H mutation may behave similarly to SV40 large T antigen, inhibiting tumor suppressive functions of retinoblastoma protein 1. 21955916 2011
dbSNP: rs3213180
rs3213180
Entrez Id: 1869;63941
Gene Symbol: E2F1;NECAB3
E2F1;NECAB3
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0278996
Disease:
Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C3887461
Disease:
Head and Neck Carcinoma
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C3887461
Disease:
Head and Neck Carcinoma
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0278996
Disease:
Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population. 30036075 2018
dbSNP: rs3213180
rs3213180
Entrez Id: 1869;63941
Gene Symbol: E2F1;NECAB3
E2F1;NECAB3
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE Our findings suggest that E2F1-rs3213180 polymorphism may modulate the risk of recurrence in SCCOP patients, particularly for patients with HPV16-positive tumors of SCCOP. 29574328 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. 29690802 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. 29690802 2018
dbSNP: rs3213176
rs3213176
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. 29690802 2018
dbSNP: rs3213172
rs3213172
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. 29690802 2018
dbSNP: rs3213172
rs3213172
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. 29690802 2018
dbSNP: rs3213172
rs3213172
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. 29690802 2018
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. 29690802 2018
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. 29690802 2018
dbSNP: rs3213173
rs3213173
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. 29690802 2018