Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE Compared with endometriosis cases without the N314D allele, those cases with the allele tended to have more advanced disease and a family history of endometriosis. 9238674

1996

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE There were no significant differences observed in the N314D mutation frequency between women with endometriosis (18%) and controls (17%). 9714048

1998

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE We conclude that the galactose-1-phosphate uridyl transferase N314D polymorphism is unlikely to be associated with endometriosis in the UK population. 10508229

1999

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides. 11704127

2001

dbSNP: rs5498
rs5498
0.050 GeneticVariation BEFREE In contrast, the allele and genotype frequencies of the E/K469 polymorphism did not differ significantly between endometriosis and control groups. 12529420

2003

dbSNP: rs1799969
rs1799969
0.040 GeneticVariation BEFREE While the functional correlate of the G/R241 polymorphism remains unclear, this finding indicates that a genetic polymorphism in the ICAM-1 gene domain may contribute to the susceptibility to endometriosis. 12529420

2003

dbSNP: rs1801282
rs1801282
0.020 GeneticVariation BEFREE Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis. 15136115

2004

dbSNP: rs1805192
rs1805192
0.020 GeneticVariation BEFREE Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis. 15136115

2004

dbSNP: rs1232898090
rs1232898090
0.010 GeneticVariation BEFREE Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis. 15136115

2004

dbSNP: rs1799864
rs1799864
0.010 GeneticVariation BEFREE We have used real-time PCR and FRET technologies to genotype and evaluate the variants CCR5-Delta32 and CCR2-V64I, as susceptibility factors in a cohort of Spanish women with endometriosis. 14981141

2004

dbSNP: rs605059
rs605059
0.050 GeneticVariation BEFREE Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. 15640252

2005

dbSNP: rs700519
rs700519
0.020 GeneticVariation BEFREE Here, we evaluated whether the risk and severity of endometriosis are associated with polymorphisms in estradiol-synthesizing enzyme genes: the Ser312Gly polymorphism in 17-beta-hydroxysteroid dehydrogenase type 1 (HSD17B1) and the Arg264Cys polymorphism in cytochrome P450, subfamily XIX (CYP19). 15640252

2005

dbSNP: rs500760
rs500760
PGR
0.010 GeneticVariation BEFREE TDT showed weak evidence of allelic association between endometriosis and rs500760 (P = 0.027) but not in the expected direction. 16126772

2005

dbSNP: rs2070074
rs2070074
0.050 GeneticVariation BEFREE These findings suggest that Q188R and N314D mutations are not likely to be associated with an increased risk of endometriosis among Chinese Women. 16416427

2006

dbSNP: rs5498
rs5498
0.050 GeneticVariation BEFREE Our results suggest that the IL-6 -634C/G and ICAM-1 469K/E polymorphisms synergistically affect the susceptibility for endometriosis in the Japanese population. 16938116

2006

dbSNP: rs75391579
rs75391579
0.010 GeneticVariation BEFREE These findings suggest that Q188R and N314D mutations are not likely to be associated with an increased risk of endometriosis among Chinese Women. 16416427

2006

dbSNP: rs9340773
rs9340773
0.010 GeneticVariation BEFREE DNA samples from endometriosis lesions and control tissues from the same collectives were also analyzed for the exonic G229A polymorphism. 16388018

2006

dbSNP: rs1042522
rs1042522
0.060 GeneticVariation BEFREE Arg72Pro p53 polymorphism in Italian women: no association with endometriosis. 17412337

2007

dbSNP: rs1131691014
rs1131691014
0.060 GeneticVariation BEFREE Arg72Pro p53 polymorphism in Italian women: no association with endometriosis. 17412337

2007

dbSNP: rs878854066
rs878854066
0.060 GeneticVariation BEFREE Arg72Pro p53 polymorphism in Italian women: no association with endometriosis. 17412337

2007

dbSNP: rs25487
rs25487
0.030 GeneticVariation BEFREE We concluded that XRCC1 Arg399Gln polymorphism is associated with higher susceptibility to endometriosis and XRCC1 Arg399Gln polymorphism might be a useful biomarker for endometriosis. 18442016

2007

dbSNP: rs1048943
rs1048943
0.020 GeneticVariation BEFREE Neither CYP1A1 Ile462Val and CYP1B1 Leu432Val polymorphisms (genotypes with versus genotypes without the minor allele) nor serum dioxin and PCB toxic equivalency (TEQ) levels (low versus high) were independently associated with either early or advanced endometriosis risk. 17449539

2007

dbSNP: rs1056836
rs1056836
0.010 GeneticVariation BEFREE Although no association was found between serum PCB TEQ level and advanced endometriosis in any stratum of CYP1B1 Leu432Val polymorphism, a statistically significant interaction was found (P for interaction = 0.05). 17449539

2007

dbSNP: rs700518
rs700518
0.010 GeneticVariation BEFREE CYP19 115T>C, 240G>A, and 1531C>T polymorphisms and [TTTA]n tetranucleotide repeat polymorphisms in the CYP19 gene and their haplotypes were not significantly associated with the risk of endometriosis. 17687621

2007

dbSNP: rs3025039
rs3025039
0.040 GeneticVariation BEFREE To further investigate the reported association between VEGF variants and endometriosis, we tested the four VEGF polymorphisms (-2578 A/C, rs699947; -460 T/C, rs833061; +405 G/C, rs2010963 and +936 C/T, rs3025039) in a large Australian sample of 958 familial endometriosis cases and 959 controls. 18650217

2008