Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913322
rs121913322
0.700 GeneticVariation UNIPROT

dbSNP: rs121964872
rs121964872
0.700 GeneticVariation UNIPROT

dbSNP: rs80357522
rs80357522
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs80357678
rs80357678
C 0.700 GeneticVariation CLINVAR

dbSNP: rs864622149
rs864622149
T 0.700 GeneticVariation CLINVAR

dbSNP: rs28897696
rs28897696
0.010 GeneticVariation BEFREE Any one of four germ-line mutations in the C-terminal region found in patients with breast or ovarian cancer (Ala-1708-->Glu, Gln-1756 C+, Met-1775-->Arg, Tyr-1853 ->Stop), had markedly impaired transcription activity. 8942979

1996

dbSNP: rs2227564
rs2227564
0.010 GeneticVariation BEFREE In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. 9194591

1997

dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE To determine whether the excess of colon cancer in some breast-ovarian cancer families is related to the I1307K mutation, we evaluated 264 Ashkenazi Jews from 158 families. 9407954

1997

dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE To determine whether the excess of colon cancer in some breast-ovarian cancer families is related to the I1307K mutation, we evaluated 264 Ashkenazi Jews from 158 families. 9407954

1997

dbSNP: rs397516436
rs397516436
0.010 GeneticVariation BEFREE High prevalence of codon 213Arg-->Stop mutations of the TP53 gene in human ovarian cancer in the southwestern part of The Netherlands. 9579562

1998

dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE In the Ashkenazi Jewish population, the I1307K allele is unlikely to increase the risk of ovarian cancer or of cancer in general. 9679945

1998

dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE In the Ashkenazi Jewish population, the I1307K allele is unlikely to increase the risk of ovarian cancer or of cancer in general. 9679945

1998

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE Our results support previous reports of an association of impaired galactose metabolism with serous and undifferentiated ovarian cancers but contradict previous findings of increased N314D mutation frequencies among women with endometriosis and endometrioid and clear cell sub-types ovarian cancer. 9714048

1998

dbSNP: rs1799950
rs1799950
0.040 GeneticVariation BEFREE The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. 10196379

1999

dbSNP: rs80357796
rs80357796
0.030 GeneticVariation BEFREE The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. 10196379

1999

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE The difference was most evident for endometrioid and clear cell types of ovarian cancer, in which 3.9% of cases were found to be homozygous for N314D compared with 0.4% of controls, yielding an odds ratio and 95% confidence interval of 14.17 (2.62-76.60). 10667469

2000

dbSNP: rs1051740
rs1051740
0.020 GeneticVariation BEFREE The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovarian cancer. 11255266

2001

dbSNP: rs1042838
rs1042838
PGR
0.030 GeneticVariation BEFREE No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer. 11323389

2001

dbSNP: rs1456079929
rs1456079929
PGR
0.010 GeneticVariation BEFREE To assess whether the progesterone receptor (PR) exon 4 valine to leucine amino acid variant is associated with specific tumour characteristics or with overall risk of ovarian cancer, we examined 551 cases of epithelial ovarian cancer and 298 unaffected controls for the underlying G-->T nucleotide substitution polymorphism. 11323389

2001

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE We found no effect of N314D GALT genotype on the risk of borderline ovarian cancer (odds ratio (OR)=0.91; 95% confidence interval (CI)=0.54-1.6) or invasive ovarian cancer (OR=0.78; 95% CI= 0.53-1.2). 11936817

2002

dbSNP: rs1799983
rs1799983
0.010 GeneticVariation BEFREE We investigated two polymorphisms (exon 7 Glu298Asp and a 27-bp repeat in intron 4) of the gene encoding endothelial nitric oxide synthase (Nos3) in 130 patients with ovarian cancer, 26 patients with borderline ovarian cancer, and 133 healthy age-matched Caucasian women using PCR and pyrosequencing, respectively. 12144818

2002

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer. 12370157

2002

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE We conclude that the GALT N314D allele does not predispose to epithelial ovarian cancer. 12869412

2003

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE There was no association between BRCA2 N372H and risk of borderline or invasive epithelial ovarian cancer. 14555511

2003

dbSNP: rs748876625
rs748876625
0.020 GeneticVariation BEFREE A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. 14986830

2003