Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045242
rs1045242
0.010 GeneticVariation BEFREE The minor allele of rs1045242 in the TNFAIP8 gene was strongly associated with with EC risk (adjust OR: 1.636, 95% CI 1.107-2.417, P = 0.014). rs11064 SNPs correlated with TNFAIP8 protein expression in EC (P = 0.015). 31043860

2019

dbSNP: rs11064
rs11064
0.010 GeneticVariation BEFREE SNP rs11064 in TNFAIP8 increased EC risk and significantly related with its protein expression in northern Chinese women. 31043860

2019

dbSNP: rs1524107
rs1524107
0.010 GeneticVariation BEFREE We observed a significant increase in risk of endometrial cancer of rs1524107 (IL6) (T/C, OR = 1.61, 95% CI = 1.09-2.37, p = 1.55 × 10<sup>-2</sup> ), rs2066992 (IL 6) (OR = 3.09, 95% CI = 2.11-4.53, p = 3.13 × 10<sup>-9</sup> ). 30828987

2019

dbSNP: rs2066992
rs2066992
0.010 GeneticVariation BEFREE We observed a significant increase in risk of endometrial cancer of rs1524107 (IL6) (T/C, OR = 1.61, 95% CI = 1.09-2.37, p = 1.55 × 10<sup>-2</sup> ), rs2066992 (IL 6) (OR = 3.09, 95% CI = 2.11-4.53, p = 3.13 × 10<sup>-9</sup> ). 30828987

2019

dbSNP: rs2072472
rs2072472
0.010 GeneticVariation BEFREE Stratified analysis by age showed that rs2072472 was associated with endometrial cancer risk in age >54 subgroup. 30895748

2019

dbSNP: rs3218896
rs3218896
0.010 GeneticVariation BEFREE Overall analysis results found that two SNPs (rs4851527 and rs3218896) and haplotypes TGTC and TACT were significantly associated with endometrial cancer risk. 30895748

2019

dbSNP: rs3742330
rs3742330
0.010 GeneticVariation BEFREE Dicer rs3742330 AG and GG genotypes may have the potential to be used as a predictor of poor prognosis in the management of EC case. 30488844

2019

dbSNP: rs4851527
rs4851527
0.010 GeneticVariation BEFREE Overall analysis results found that two SNPs (rs4851527 and rs3218896) and haplotypes TGTC and TACT were significantly associated with endometrial cancer risk. 30895748

2019

dbSNP: rs587781462
rs587781462
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first description of MSH6 T767I pathogenic variant that could be associated with a hereditary endometrial cancer. 31100584

2019

dbSNP: rs786205228
rs786205228
0.010 GeneticVariation BEFREE Restoration of wild-type PPP2R1A in P179R</span>-mutant endometrial cancer cells increases phosphatase activity and inhibits tumor growth <i>in vivo</i> Furthermore, a small-molecule activator of PP2A (SMAP) phenocopies restoration of wild-type PPP2R1A to suppress tumor growth. 31416848

2019

dbSNP: rs9261204
rs9261204
0.010 GeneticVariation BEFREE Minor allele of rs9261204 was significantly associated with increased risk of EC (OR: 1.33; 95% CI: 1.09-1.61; p = 0.004). 31599404

2019

dbSNP: rs1156807933
rs1156807933
0.010 GeneticVariation BEFREE MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization. 29155953

2018

dbSNP: rs117039649
rs117039649
0.010 GeneticVariation BEFREE Increasing evidence has suggested that rs2279744 is associated with rs117039649 polymorphism, which can increase the risk of gynecological cancers, including cervical, ovarian, breast, and endometrial cancer. 29480845

2018

dbSNP: rs2475335
rs2475335
0.010 GeneticVariation BEFREE Cross-disease GWAS meta-analysis highlighted 13 distinct loci associated at P ≤ 10<sup>-5</sup> with both endometriosis and endometrial cancer, with one locus (SNP rs2475335) located within PTPRD associated at a genomewide significant level (P = 4.9 × 10<sup>-8</sup> , OR = 1.11, 95% CI = 1.07-1.15). 29608257

2018

dbSNP: rs3761548
rs3761548
0.010 GeneticVariation BEFREE Our results suggest that the frequency of the A allele in rs3761548 in patients with EC was significantly lower than that in healthy controls (20.3% vs 26.4%, odds ratio [OR] 0.71, 95% confidence interval [CI]: 0.54-0.93, P = .012), while the heterozygous AC genotype showed a significant protective effect on EC in codominant, dominant, and overdominant models (adjusted OR 0.64, 95% CI: 0.45-0.91, P = .039; OR 0.65, 95% CI: 0.47-0.91, P = .011; OR 0.67, 95% CI: 0.47-0.94, P = .02, respectively), and AA genotype was more frequent in patients with cervical invasion (recessive model: OR 3.55, 95% CI: 1.10-11.44, P = .046). 29718856

2018

dbSNP: rs4980524
rs4980524
0.010 GeneticVariation BEFREE The promoter reporter with rs4980524 GG genotype significantly increased luciferase activity than that with TT genotype in endometrial cancer RL95-2 cells, and the primary endometrial stromal cells carrying rs4980524 GG genotype expressed higher protein levels of STIP1 and MMP9 than those carrying the TT one. 29673672

2018

dbSNP: rs662
rs662
0.010 GeneticVariation BEFREE PON1 Q192R polymorphism is not associated with the risk of endometrial cancer. 30178714

2018

dbSNP: rs12112075
rs12112075
0.010 GeneticVariation BEFREE Association of Single Nucleotide Polymorphism -2548 G/A (rs12112075) of leptin gene with endometrial cancer and uterine leiomyomas. 28964972

2017

dbSNP: rs371077728
rs371077728
0.010 GeneticVariation BEFREE In a <i>BRCA-</i>negative family with positive history of breast and endometrial cancer, next-generation sequencing-based panel testing identified a mutation in the <i>MRE11A</i> gene (NM_005590 c.1090C>T: p.Arg364Ter). 28559769

2017

dbSNP: rs1042838
rs1042838
PGR
0.010 GeneticVariation BEFREE In conclusion, our findings provide empirical evidence that PGR rs1042838 and rs10895068 polymorphisms may be involved in the pathogenesis of endometrial cancer. 26881523

2016

dbSNP: rs10512263
rs10512263
0.010 GeneticVariation BEFREE Classification and regression tree (CART) demonstrated that women carrying both the genotypes of TGFBR1 rs6478974 TT and rs10512263 TC/CC had the highest risk of EC (aOR = 7.86, 95% CI = 3.42-18.07, P<0.0001). 27171242

2016

dbSNP: rs10733710
rs10733710
0.010 GeneticVariation BEFREE Logistic regression (LR) showed that the genetic variants of TGFB1 rs1800469, TGFBR1 rs6478974 and rs10733710, TWIST1 rs4721745 were associated with decreased EC risk, and these four loci showed a dose-dependent effect (Ptrend < 0.0001). 27171242

2016

dbSNP: rs10895068
rs10895068
0.010 GeneticVariation BEFREE In conclusion, our findings provide empirical evidence that PGR rs1042838 and rs10895068 polymorphisms may be involved in the pathogenesis of endometrial cancer. 26881523

2016

dbSNP: rs1501299
rs1501299
0.010 GeneticVariation BEFREE Single nucleotide polymorphism +276G > T (rs1501299) in ADIPOQ may be considered to be a risk factor of endometrial cancer. 26386690

2016

dbSNP: rs1740828
rs1740828
0.010 GeneticVariation BEFREE We describe one new locus reaching genome-wide significance (P < 5 × 10 <sup>-</sup><sup>8</sup>) at 6p22.3 (rs1740828; P = 2.29 × 10 <sup>-</sup><sup>8</sup>, OR = 1.20), providing evidence of an additional region of interest for genetic susceptibility to endometrial cancer. 27008869

2016