Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200075329
rs200075329
0.010 GeneticVariation BEFREE This study suggests that the ER S118P variant does not affect risk for breast cancer or hormone therapy resistance. 30560461

2019

dbSNP: rs3778609
rs3778609
0.010 GeneticVariation BEFREE These SNPs were in high LD (r<sup>2</sup> > 0.9) with each other, with the top SNP, rs3778609, associated with breast cancer with an odds ratio (OR) and 95% confidence interval (95% CI) of 0.76 (0.70-0.84). 30642363

2019

dbSNP: rs760503206
rs760503206
0.010 GeneticVariation BEFREE Surveying a small set of CAFs from breast cancer</span> biopsies, we found that a relatively common single nucleotide polymorphism, which results in the expression of a GPER variant with the amino acid substitution P16L, is associated with the nuclear localization of GPER. 28596490

2017

dbSNP: rs1459132456
rs1459132456
0.010 GeneticVariation BEFREE To evaluate the role of this polymorphism as a risk factor for breast cancer in Kurdish patients and to investigate the possible association between Arg194Trp x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms with clinical and histopathological outcomes of patients with breast cancer. 27279507

2016

dbSNP: rs523736
rs523736
0.010 GeneticVariation BEFREE For overall breast cancer risk, three single-nucleotide polymorphisms (SNPs) in miRNA biogenesis genes DROSHA rs78393591 (OR = 0.69, 95 % CI: 0.55-0.88, P = 0.003), ESR1 rs523736 (OR = 0.88, 95 % CI: 0.82-0.95, P = 3.99 × 10(-4)), and ZCCHC11 rs114101502 (OR = 1.33, 95 % CI: 1.11-1.59, P = 0.002), and one SNP in primary miRNA sequence (rs116159732 in miR-6826, OR = 0.74, 95 % CI: 0.63-0.89, P = 0.001) were found to have significant associations in both discovery and validation phases. 27380242

2016

dbSNP: rs9479118
rs9479118
0.010 GeneticVariation BEFREE In the > 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility. 26850117

2016

dbSNP: rs2273206
rs2273206
0.010 GeneticVariation BEFREE ESR1, rs2881766, rs2077647, rs926778, and rs2273206 polymorphisms increased breast cancer risk, and rs3798377 decreased the risk in overall patients. 25323936

2015

dbSNP: rs926778
rs926778
0.010 GeneticVariation BEFREE For the tumor subtypes, rs2881766 increased breast cancer risk manly in luminal A, HER2-overexpressing, and triple-negative subtypes except for luminal B subtype, and rs926778 increased the risk in luminal A and triple-negative subtypes. 25323936

2015

dbSNP: rs1207112399
rs1207112399
0.010 GeneticVariation BEFREE The G473A polymorphism (rs1800449) results in the Arg158Gln amino acid substitution in the LOX propeptide, compromises its tumour suppressive activity, and was associated with an increased breast cancer risk in a Chinese Han population. 25141126

2014

dbSNP: rs12525163
rs12525163
0.010 GeneticVariation BEFREE Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. 24325915

2014

dbSNP: rs3798758
rs3798758
0.010 GeneticVariation BEFREE Breast cancer risk was significantly associated with three SNPs located at 6q25.1-rs9383935 in CCDC170 and rs2228480 and rs3798758 in ESR1-with variant allele attributed odds ratios (ORs) of 1.38 (95% confidence interval (CI): 1.20 to 1.57, P=2.21×10(-6)), 0.84 (95% CI: 0.72 to 0.98, P=0.025) and 1.19 (95% CI: 1.04 to 1.37, P=0.013), respectively. 25116933

2014

dbSNP: rs2747648
rs2747648
0.010 GeneticVariation BEFREE The aim of the study was to analyze the impact of the rs2747648 genetic variant in the estrogen receptor alpha (ER1) gene affecting a putative miR-453-binding site on the risk of breast cancer in postmenopausal women. 22012767

2012

dbSNP: rs747099645
rs747099645
0.010 GeneticVariation BEFREE A DNA bank of patients with gynecologic oncology, patients with breast cancer (n = 335), and healthy women (n = 530) was created, and the following single-nucleotide polymorphisms were examined: CYP1A1 M1 polymorphism, that is, T264-C transition in the 30-noncoding region; CYP1A2*1F polymorphism, that is, C734-A transversion in the CYP1A2 gene; C-T transition (Arg264Cys) in exon 7 of CYP19; and SULT1A1*2 polymorphism, that is, G638-A transition (Arg213His) in the SULT1A1 gene. 21977969

2012

dbSNP: rs7766585
rs7766585
0.010 GeneticVariation BEFREE Potential association to breast cancer was identified for 15 SNPs and one of these SNPs (rs7766585 in ESR1) was found to associate strongly with breast cancer, OR 1.30 (95% CI 1.17-1.45; p-value 2.1 × 10(-6)), when tested in a verification panel consisting of 3,211 unique breast cancer cases and 4,223 unique controls from five European biobank cohorts. 21105050

2011

dbSNP: rs1455751791
rs1455751791
0.010 GeneticVariation BEFREE Our data suggest that ER-beta polymorphism in exon 7 codon 392 (C1176G) is correlated with various aspects of breast cancer and lymph node metastasis in our group of patients. 20604969

2010

dbSNP: rs3020314
rs3020314
0.010 GeneticVariation BEFREE SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. 19126777

2009

dbSNP: rs761843408
rs761843408
0.010 GeneticVariation BEFREE In a large multiethnic case-control study, the G/A870 polymorphism conferred no significant risk for breast cancer overall or by stage or estrogen receptor (ER) status. 19287456

2009

dbSNP: rs767863538
rs767863538
0.010 GeneticVariation BEFREE A three-member fingerprint of S100P-correlated genes, consisting of GPRC5A, FXYD3, and PYCARD, conferred poor outcome in multiple breast cancer data sets, irrespective of estrogen receptor status but dependent on tumor size (P < 0.01). 19789341

2009

dbSNP: rs2144025
rs2144025
0.010 GeneticVariation BEFREE A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086). 18271972

2008

dbSNP: rs3003925
rs3003925
0.010 GeneticVariation BEFREE A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086). 18271972

2008

dbSNP: rs201145204
rs201145204
0.010 GeneticVariation BEFREE Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR=1.81, 95% CI=1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk (adjusted OR=0.74, 95% CI=0.56-0.99). 17028982

2007

dbSNP: rs746432
rs746432
0.010 GeneticVariation BEFREE In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132. 17268813

2007

dbSNP: rs1364963022
rs1364963022
0.010 GeneticVariation BEFREE There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls. 16465510

2006

dbSNP: rs200282497
rs200282497
0.010 GeneticVariation BEFREE There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls. 16465510

2006

dbSNP: rs188957694
rs188957694
0.010 GeneticVariation BEFREE The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered. 16166291

2005