Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1130409
rs1130409
0.020 GeneticVariation BEFREE We investigated the association of polymorphisms in the DNA repair genes XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His, APE1 Asp148Glu, and HOGG1 Ser326Cys with endometriosis risk. 20391347

2010

dbSNP: rs1130409
rs1130409
0.020 GeneticVariation BEFREE The APEX1 Asp(148)Glu genotype correlates well with its mRNA and protein expression among endometriosis patients and may not serve as a sensitive marker for prediction of endometriosis risk in Taiwan. 25422360

2015

dbSNP: rs74781061
rs74781061
G 0.700 GeneticVariation GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265

2017

dbSNP: rs777161444
rs777161444
0.010 GeneticVariation BEFREE This meta-analysis suggested that the polymorphisms of AhR Arg554Lys and ARNT Val189Val are not associated with endometriosis, while the AhRR Pro185Ala polymorphism may be associated with endometriosis risk. 26101050

2015

dbSNP: rs4837864
rs4837864
0.010 GeneticVariation BEFREE Two SNPs within the 22 CNVRs show significant genotypic association with endometriosis after adjusting for multiple testing; rs758316 in DPP6 on 7q36.2 (P = 0.0045) and rs4837864 in ASTN2 on 9q33.1 (P = 0.0002). 25083881

2014

dbSNP: rs498679
rs498679
0.010 GeneticVariation BEFREE No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs498679 (TLR4 gene), rs1799964 (TNF-α gene), rs3024496 (IL-10 gene), neither when comparing endometriosis subgroups (I-II versus III-IV). 28470452

2017

dbSNP: rs1801516
rs1801516
ATM
0.010 GeneticVariation BEFREE Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1). 30194396

2018

dbSNP: rs6265
rs6265
0.010 GeneticVariation BEFREE RESULTS There was no association between the BDNF Val66Met polymorphism and overall endometriosis (P> 0.05), whereas higher genotype and allele frequencies of the BDNF(Met) polymorphism were found in the Stage III-IV endometriosis (both P< 0.01) and endometriosis-related infertile patients (both P< 0.05). 22447624

2012

dbSNP: rs759834365
rs759834365
0.010 GeneticVariation BEFREE RESULTS There was no association between the BDNF Val66Met polymorphism and overall endometriosis (P> 0.05), whereas higher genotype and allele frequencies of the BDNF(Met) polymorphism were found in the Stage III-IV endometriosis (both P< 0.01) and endometriosis-related infertile patients (both P< 0.05). 22447624

2012

dbSNP: rs3820445
rs3820445
G 0.700 GeneticVariation GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265

2017

dbSNP: rs625879
rs625879
0.010 GeneticVariation BEFREE We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women. 21429654

2011

dbSNP: rs3733890
rs3733890
0.010 GeneticVariation BEFREE We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women. 21429654

2011

dbSNP: rs71361504
rs71361504
0.010 GeneticVariation BEFREE BRCA1 rs71361504 SNP may modify the endometriosis risk in Indian women. 25380576

2015

dbSNP: rs144824657
rs144824657
BSG
T 0.700 GeneticVariation GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265

2017

dbSNP: rs644045
rs644045
0.710 GeneticVariation BEFREE We have also identified significant association with endometriosis of 18 SNPs localised on chromosome 6 in position range 31883957 - 32681631 (C2 and HLA-DRA genes region) with the lowest observed p value for rs644045 in C2 gene (p=2.04×10<sup>-8</sup>, OR=1.955, 95% CI=1.541-2.480). 28881265

2017

dbSNP: rs644045
rs644045
T 0.710 GeneticVariation GWASCAT We have also identified significant association with endometriosis of 18 SNPs localised on chromosome 6 in position range 31883957 - 32681631 (C2 and HLA-DRA genes region) with the lowest observed p value for rs644045 in C2 gene (p=2.04×10<sup>-8</sup>, OR=1.955, 95% CI=1.541-2.480). 28881265

2017

dbSNP: rs11085835
rs11085835
T 0.700 GeneticVariation GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265

2017

dbSNP: rs893363
rs893363
0.010 GeneticVariation BEFREE We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women. 21429654

2011

dbSNP: rs116250606
rs116250606
T 0.700 GeneticVariation GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265

2017

dbSNP: rs116175374
rs116175374
0.700 GeneticVariation GWASCAT Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. 28333195

2017

dbSNP: rs17387019
rs17387019
0.010 GeneticVariation BEFREE We also found no evidence for an association between the highly correlated SNP rs17387019 and endometriosis. 23010532

2012

dbSNP: rs1971256
rs1971256
C 0.700 GeneticVariation GWASCAT Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. 28537267

2017

dbSNP: rs2294021
rs2294021
0.010 GeneticVariation BEFREE Our results suggest that the rs2294021 (CCDC22 gene) polymorphism could be associated with increased susceptibility to endometriosis in Brazilian women when the allele C is present. 28470452

2017

dbSNP: rs2812378
rs2812378
0.010 GeneticVariation BEFREE We found an association of CCL21 (rs2812378) and HLA-DRB1 (rs660895) with moderate to severe endometriosis. 20797713

2011

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