rs2046210
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.4 | 1.4x increased breast cancer risk |
| (T;T) | 1.6 | 1.6x increased breast cancer risk in certain women |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 151627231 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2046210 |
| dbSNP (classic) | rs2046210 |
| ClinGen | rs2046210 |
| ebi | rs2046210 |
| HLI | rs2046210 |
| Exac | rs2046210 |
| Gnomad | rs2046210 |
| Varsome | rs2046210 |
| LitVar | rs2046210 |
| Map | rs2046210 |
| PheGenI | rs2046210 |
| Biobank | rs2046210 |
| 1000 genomes | rs2046210 |
| hgdp | rs2046210 |
| ensembl | rs2046210 |
| geneview | rs2046210 |
| scholar | rs2046210 |
| rs2046210 | |
| pharmgkb | rs2046210 |
| gwascentral | rs2046210 |
| openSNP | rs2046210 |
| 23andMe | rs2046210 |
| SNPshot | rs2046210 |
| SNPdbe | rs2046210 |
| MSV3d | rs2046210 |
| GWAS Ctlg | rs2046210 |
| GMAF | 0.3825 |
| Max Magnitude | 1.6 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2046210 is a SNP upstream of the estrogen receptor alpha ESR1 gene.
A study of ~7,000 breast cancer cases among Chinese women concluded that rs2046210 was associated with increased risk for the disease; the odds ratio was 1.59 (CI: 1.4-1.82) and 1.36 (CI: 1.24-1.49) for homozygote and heterozygote carriers of a (T) allele (in dbSNP orientation), respectively.[PMID 19219042
]
A pooled analysis of 31,000+ women found a positive association for rs2046210 and breast cancer risk in Chinese women (odds ratio 1.30, CI: 1.22-1.38, and 1.64, CI: 1.50-1.80, for the CT and TT genotypes (in dbSNP orientation), respectively, p(trend) = 1.54 × 10e-30), Japanese women (1.31, CI: 1.13-1.52, and 1.37, CI: 1.06-1.76, p(trend) = 2.51 × 10e-4), and European-ancestry American women (1.07, CI: 0.99-1.16, and 1.18, CI: 1.04-1.34, p(trend) 0.0069). No association with this SNP, however, was observed in African American women.[PMID 21303983]
[PMID 20661439] Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus
[PMID 20699374] Evaluation of Breast Cancer Susceptibility Loci in Chinese Women
[PMID 21197568] Risk of genome-wide association study newly identified genetic variants for breast cancer in Chinese women of Heilongjiang Province
[PMID 21272446] Association of a single nucleotide polymorphism at 6q25.1,rs2046210, with endometrial cancer risk among Chinese women
[PMID 21415360] Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype
[PMID 21445572] Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
[PMID 21528353] Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population
[PMID 21791674] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
[PMID 22053997] Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
[PMID 21593217] Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
[PMID 22452962] A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study
[PMID 22792352] Microsatellites in the Estrogen Receptor (ESR1, ESR2) and Androgen Receptor (AR) Genes and Breast Cancer Risk in African American and Nigerian Women
[PMID 20056644] ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: an Ovarian Cancer Association Consortium study.
[PMID 20085711] Leveraging genetic variability across populations for the identification of causal variants.
[PMID 20484103] Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women.
[PMID 21844186] Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
[PMID 22160591] A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese population.
[PMID 23104177] Fine-mapping of the 6q25 locus identifies a novel SNP associated with breast cancer risk in African American women
[PMID 23272245] A Common Polymorphism near the ESR1 Gene Is Associated with Risk of Breast Cancer: Evidence from a Case-Control Study and a Meta-Analysis
[PMID 22269215] Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women
[PMID 23486537] Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations
[PMID 23609471] Association between a novel polymorphism (rs2046210) of the 6q25.1 locus and breast cancer risk
[PMID 23785413] Quantitative Assessment of the Association between rs2046210 at 6q25.1 and Breast Cancer Risk
[PMID 23888322] Single nucleotide polymorphism 6q25.1 rs2046210 and increased risk of breast cancer
| GWAS snp | |
|---|---|
| PMID | [PMID 23544013]
|
| Trait | Breast Cancer in BRCA1 mutation carriers |
| Title | Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. |
| Risk Allele | C |
| P-val | 5E-9 |
| Odds Ratio | 1.28 [1.18-1.39] |
[PMID 24289300] Effects of lifestyle and single nucleotide polymorphisms on breast cancer risk: a case--control study in Japanese women
| GWAS snp | |
|---|---|
| PMID | [PMID 23535733]
|
| Trait | Breast cancer |
| Title | Genome-wide association studies identify four ER negative-specific breast cancer risk loci. |
| Risk Allele | A |
| P-val | 5E-16 |
| Odds Ratio | 1.15 [1.11-1.19] |
[PMID 22965832] Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population.
[PMID 23354978] Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
[PMID 23577780] Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.
[PMID 25116933] Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population
| ClinVar | |
|---|---|
| Risk | Rs2046210(T;T) |
| Alt | Rs2046210(T;T) |
| Reference | Rs2046210(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Estrogen resistance |
| Variation | info |
| Gene | LOC105378058 |
| CLNDBN | Estrogen resistance |
| Reversed | 1 |
| HGVS | NC_000006.11:g.151948366G>A |
| CLNSRC | |
| CLNACC | RCV000143994.1, |
[PMID 25228414] Variants of estrogen-related genes and breast cancer risk in European and African American women
[PMID 26645718] Evaluation of potential regulatory function of breast cancer risk locus at 6q25.1.
[PMID 27525837] Validation of associations between ESR1 variants and breast cancer risk in Chinese cohorts.
[PMID 27688728] Evaluation of a newly discovered breast cancer susceptibility locus at 6q25.1 in Iranian Azari-Turkish women.
