Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs567534295
rs567534295
0.010 GeneticVariation BEFREE Analyses performed under logistic model, linear mixed model, and model incorporating correlations identified nine significant associations with three gynecologic diseases including four novel findings (rs79219469:C > T, LINC02183, P = 3.3 × 10<sup>-8</sup> and rs567534295:C > T, BRCA1, P = 3.1 × 10<sup>-8</sup> with OC, rs150806792:C > T, INS-IGF2, P = 4.9 × 10<sup>-8</sup> and rs140991990:A > G, SOX9, P = 3.3 × 10<sup>-8</sup> with UCC). 31488892

2020

dbSNP: rs80357268
rs80357268
0.010 GeneticVariation BEFREE BRCA1, p.(Val1833Met) is possibly a disease-associated variant, supported by a likelihood ratio of 1.88, while a correlation to ovarian cancer is suspected. 31447071

2019

dbSNP: rs12373237
rs12373237
0.010 GeneticVariation BEFREE The CC homozygous mutation of rs12373237 was highly correlated with the onset of ovarian cancer (OR=4.333, P=0.028). 31402958

2019

dbSNP: rs2699887
rs2699887
0.010 GeneticVariation BEFREE Interaction between PIK3CA rs2699887 SNP and age, number of liveborn, tobacco, alcohol, a family history of ovarian cancer and other factors are associated with ovarian cancer risk. 31288947

2019

dbSNP: rs3976507
rs3976507
0.010 GeneticVariation BEFREE Interaction between PIK3CA rs3976507 and rs6443626 loci, and factors such as BMI, number of liveborn, tobacco, alcohol, and family history of ovarian cancer are associated with ovarian cancer risk. 31288947

2019

dbSNP: rs6443626
rs6443626
0.010 GeneticVariation BEFREE Interaction between PIK3CA rs3976507 and rs6443626 loci, and factors such as BMI, number of liveborn, tobacco, alcohol, and family history of ovarian cancer are associated with ovarian cancer risk. 31288947

2019

dbSNP: rs3020450
rs3020450
0.020 GeneticVariation BEFREE To investigate the correlation between the polymorphism of estrogen receptor β gene (ESR2) rs3020450 and cancer susceptibility, and explore the epidemiological significance and the effect of ESR2 expression levels on the prognosis of ovarian cancer. 31200086

2019

dbSNP: rs1051740
rs1051740
0.020 GeneticVariation BEFREE Overall results demonstrated that the association between <i>EPHX1</i> polymorphism rs1051740</span> and ovar</span>ian cancer risk had no statistical significance either in total analysis or in subgroup analyses by ethnicity and source of control. 31174441

2019

dbSNP: rs876658657
rs876658657
0.020 GeneticVariation BEFREE Correction: The hMLH1 -93G>A Polymorphism and Risk of Ovarian Cancer in the Chinese Population. 31150525

2019

dbSNP: rs3212986
rs3212986
0.010 GeneticVariation BEFREE ERCC1 rs3212986 (C/A) polymorphisms posed an increased risk for breast and ovarian cancer as whole (A vs C: OR = 1.12, 95% CI = 1.01-1.25; AA + CA vs CC: OR = 1.11, 95% CI = 1.02-1.22), and presented especially higher risk for ovarian cancer (A vs C: OR = 1.31, 95% CI = 1.05-1.63; AA vs CA + CC: OR = 1.66, 95% CI = 1.12-2.47; AA vs CC: OR = 1.72, 95% CI = 1.12-2.64). 31081240

2019

dbSNP: rs200640585
rs200640585
0.010 GeneticVariation BEFREE PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer. 31056861

2019

dbSNP: rs587778617
rs587778617
0.010 GeneticVariation BEFREE PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer. 31056861

2019

dbSNP: rs79722116
rs79722116
0.010 GeneticVariation BEFREE Additionally, two non-synonymous SNPs rs201407189 (c.973G>A, p.A325T) and rs1800367 (c.1345G>A, p.V449M), and two synonymous SNPs rs55719336 (c.816C>T, p.I272I) and rs79722116 (c.1407G>A, p.T469T) were identified in FBOC patients. 30967997

2019

dbSNP: rs80356897
rs80356897
0.010 GeneticVariation BEFREE Additionally, two non-synonymous SNPs rs201407189 (c.973G>A, p.A325T) and rs1800367 (c.1345G>A, p.V449M), and two synonymous SNPs rs55719336 (c.816C>T, p.I272I) and rs79722116 (c.1407G>A, p.T469T) were identified in FBOC patients. 30967997

2019

dbSNP: rs137853011
rs137853011
0.010 GeneticVariation BEFREE This karyotype phenotype was not observed in other tested tissues or in an ovarian cancer patient with a different homozygous missense mutation in <i>CHEK2</i> (c.1283C>T; p.Ser428Phe). 30858171

2019

dbSNP: rs920778
rs920778
0.020 GeneticVariation BEFREE The association between the expression of rs920778 and BC, CC, and OC susceptibility was not clear (alleles T/C: OR = 1.28 [95% CI, 0.87-1.89]; in codominant model: CT/CC OR = 1.10, [95% CI, 0.71-1.71], TT/CC OR = 1.29 [95% CI, 0.59-2.80]; dominant model: TC + TT/CC OR = 1.16, [95% CI, 0.73-1.86]; and recessive model: TT/TC + CC OR = 1.43, [95% CI, 0.83-2.47]). 30484890

2018

dbSNP: rs1899663
rs1899663
0.010 GeneticVariation BEFREE HOTAIR rs4759314 increased susceptibility to BC, CC, and OC in some patients; rs029778 and rs1899663 also increased susceptibility to some extent. 30484890

2018

dbSNP: rs4759314
rs4759314
0.010 GeneticVariation BEFREE HOTAIR rs4759314 increased susceptibility to BC, CC, and OC in some patients; rs029778 and rs1899663 also increased susceptibility to some extent. 30484890

2018

dbSNP: rs874945
rs874945
0.010 GeneticVariation BEFREE SNPs rs12826786, rs7958904, and rs874945 did not correlate with an effect on patient susceptibility to BC, CC, and OC. 30484890

2018

dbSNP: rs25487
rs25487
0.030 GeneticVariation BEFREE This study indicated that XRCC1 Arg194Trp, Arg280His, and Arg399Gln did not affect OS after platinum-based chemotherapy in OC patients. 30407287

2018

dbSNP: rs495139
rs495139
0.020 GeneticVariation BEFREE In expression quantitative trait locus (eQTL) analysis, the rs495139 allele was positively associated with ENOSF1 mRNA expression in normal tissues of the gastrointestinal system, particularly esophageal mucosa (<i>r</i> = 0.51, <i>p</i> = 1.7 × 10<sup>-28</sup>), and nonsignificantly in five MOC tumors. 30134598

2018

dbSNP: rs2228570
rs2228570
VDR
0.050 GeneticVariation BEFREE The homozygote model with the rs2228570 (FokI) polymorphism model appeared to detect the risk of OC in all cases, whereas the heterozygote model with the rs1544410 (BsmI) polymorphism seemed to detect the risk of OC in Caucasian patients. 30059751

2018

dbSNP: rs1544410
rs1544410
VDR
0.010 GeneticVariation BEFREE Moreover, for detecting clinical risk of OC, heterozygote models with the rs1544410 (BsmI) polymorphism is likely the best genetic model for detecting the risk of OC in Caucasian patients. 30059751

2018

dbSNP: rs1695
rs1695
0.030 GeneticVariation BEFREE <i>GSTP1</i> rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes. 30038720

2018

dbSNP: rs1136905
rs1136905
0.010 GeneticVariation BEFREE We established that <i>TP53</i> "hotspot" mutations (c.659A>G; p.Y220C and c.733G>A; p.G245S) expressed by two different patients' tumors were both immunogenic in the context of HLA-DRB3*02:02.<b>Conclusions:</b> Mutation-reactive T cells infiltrated ovarian cancer metastases at sufficient frequencies to warrant their investigation as adoptive cell therapy. 29853601

2018