Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs710886
rs710886
0.010 GeneticVariation BEFREE Finally, a significant genetic effect was observed in both the dominant (AG+GG vs AA) and recessive models (GG vs AG+AA), indicating the presence of an association between the genotype of SNP rs710886 and the risk of endometriosis. 31595574

2020

dbSNP: rs11615
rs11615
0.010 GeneticVariation BEFREE The multivariate logistic regression analysis showed that subjects carrying the ERCC1 rs11615 TT (OR = 2.04, 95% CI = 1.36-3.41), ERCC2 rs1799793 AA (OR = 1.86, 95% CI = 1.14-3.11), and ERCC6 rs2228528 AA genotypes (OR = 1.79, 95% CI = 1.13-2.83) exhibited significantly increased risks of developing endometriosis compared with their counterparts carrying the wild-type genotypes. 31373346

2019

dbSNP: rs11977660
rs11977660
0.010 GeneticVariation BEFREE Genotypes with a T nucleotide at rs11977660 may significantly increase risk of endometriosis in Chinese. 31027056

2019

dbSNP: rs1536309
rs1536309
0.010 GeneticVariation BEFREE CT/CC genotype of miR-146b rs1536309 was associated with the risk of pain symptom of endometriosis. 31122533

2019

dbSNP: rs1799793
rs1799793
0.010 GeneticVariation BEFREE The multivariate logistic regression analysis showed that subjects carrying the ERCC1 rs11615 TT (OR = 2.04, 95% CI = 1.36-3.41), ERCC2 rs1799793 AA (OR = 1.86, 95% CI = 1.14-3.11), and ERCC6 rs2228528 AA genotypes (OR = 1.79, 95% CI = 1.13-2.83) exhibited significantly increased risks of developing endometriosis compared with their counterparts carrying the wild-type genotypes. 31373346

2019

dbSNP: rs2020917
rs2020917
0.010 GeneticVariation BEFREE We failed to find any significant association between rs2020917 and endometriosis risk in the crude results. 30608422

2019

dbSNP: rs2072454
rs2072454
0.010 GeneticVariation BEFREE No significant association was found between genotype at rs2072454 and endometriosis. 31027056

2019

dbSNP: rs2228528
rs2228528
0.010 GeneticVariation BEFREE The multivariate logistic regression analysis showed that subjects carrying the ERCC1 rs11615 TT (OR = 2.04, 95% CI = 1.36-3.41), ERCC2 rs1799793 AA (OR = 1.86, 95% CI = 1.14-3.11), and ERCC6 rs2228528 AA genotypes (OR = 1.79, 95% CI = 1.13-2.83) exhibited significantly increased risks of developing endometriosis compared with their counterparts carrying the wild-type genotypes. 31373346

2019

dbSNP: rs2237895
rs2237895
0.010 GeneticVariation BEFREE Gene variant (AC/CC) of KCNQ1 rs2237895 showed a slight difference in the endometriosis group compared to the fertile group (p = .049), with the C allele showing a significant association with infertility overall (OR = 1.42 [1.100-1.833]; p < .0069). 31579970

2019

dbSNP: rs354476
rs354476
0.010 GeneticVariation BEFREE Immunohistofluorescence analysis for assessing whether GP210 is expressed in endometrial tissues from patients and controls; genotyping and case-control study for assessing the association between rs354476 within NUP210 and risk of endometriosis; in vitro luciferase assay for assessing the functional activity of rs354476. 31256999

2019

dbSNP: rs591291
rs591291
0.010 GeneticVariation BEFREE The MALAT1 rs591291 C > T polymorphism was associated with a significant increase in endometriosis risk. 31803924

2019

dbSNP: rs7574865
rs7574865
0.010 GeneticVariation BEFREE A single-polymorphism analysis revealed that the TT genotype of the rs7574865/T > G polymorphism was significantly more frequent in women with minimal or mild endometriosis than in the controls (10% vs. 5%, p = 0.047). 30887509

2019

dbSNP: rs12030576
rs12030576
0.010 GeneticVariation BEFREE A known dysmenorrhea signal near NGF replicated in our data (rs12030576; P = 1.1 × 10<sup>-19</sup>) and was associated with RP4-663N10.1 expression, a putative lncRNA enhancer of NGF, while a novel dysmenorrhea signal in the IL1 locus (rs80111889; P = 1.9 × 10<sup>-16</sup>) contained SNPs previously associated with endometriosis, and GWAS SNPs were most significantly associated with IL1A expression. 29855537

2018

dbSNP: rs174538
rs174538
0.010 GeneticVariation BEFREE The FEN1 rs174538 A allele is a novel protective biomarker for endometriosis and this genotype may have interactions with age- and hormone-related factors on the development of endometriosis. 29109095

2018

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: 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: rs3918242
rs3918242
0.010 GeneticVariation BEFREE Additionally, we performed two meta-analyses for MMP9 rs3918242 polymorphism in endometriosis/adenomyosis and preeclampsia but found no association with either disorder. 29309889

2018

dbSNP: rs4246215
rs4246215
0.010 GeneticVariation BEFREE The genotypes of FEN1 rs174538, but not those of rs4246215, were differently distributed between the endometriosis and control groups. 29109095

2018

dbSNP: rs4980524
rs4980524
0.010 GeneticVariation BEFREE The G/G allele of STIP1 SNP rs4980524 is associated with the increased expression of STIP1 and MMP9 in endometriosis. 29673672

2018

dbSNP: rs78378222
rs78378222
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: rs7907606
rs7907606
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: rs80111889
rs80111889
0.010 GeneticVariation BEFREE A known dysmenorrhea signal near NGF replicated in our data (rs12030576; P = 1.1 × 10<sup>-19</sup>) and was associated with RP4-663N10.1 expression, a putative lncRNA enhancer of NGF, while a novel dysmenorrhea signal in the IL1 locus (rs80111889; P = 1.9 × 10<sup>-16</sup>) contained SNPs previously associated with endometriosis, and GWAS SNPs were most significantly associated with IL1A expression. 29855537

2018

dbSNP: rs11031006
rs11031006
0.010 GeneticVariation BEFREE We found a genetic association between rs11031006 (FSHB) SNP and endometriosis. 28901453

2017

dbSNP: rs11651755
rs11651755
0.010 GeneticVariation BEFREE As rs11651755 in HNF1B modified both the ovarian cancer risk and also the risk for endometriosis, HNF1B may be causally involved in the pathogenetic pathway leading from endometriosis to ovarian cancer. 28214017

2017

dbSNP: rs1799964
rs1799964
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