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From SNPedia

Geno Mag Summary
(C;T) 1.4 1.4x increased breast cancer risk
(T;T) 1.6 1.6x increased breast cancer risk in certain women
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs2046210
23andMe allrs2046210
SNP Nexus

GWAS Ctlgrs2046210
Max Magnitude1.6
? (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 19219042OA-icon.png]

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 21303983OA-icon.png]

[PMID 20661439OA-icon.png] Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus

[PMID 20699374OA-icon.png] 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 21272446OA-icon.png] 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 21791674OA-icon.png] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium

[PMID 22053997OA-icon.png] 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 21593217OA-icon.png] Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

[PMID 22452962OA-icon.png] A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study

[PMID 22792352OA-icon.png] Microsatellites in the Estrogen Receptor (ESR1, ESR2) and Androgen Receptor (AR) Genes and Breast Cancer Risk in African American and Nigerian Women

[PMID 20056644OA-icon.png] ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: an Ovarian Cancer Association Consortium study.

[PMID 20085711OA-icon.png] Leveraging genetic variability across populations for the identification of causal variants.

[PMID 20484103OA-icon.png] Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women.

[PMID 21844186OA-icon.png] 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.

GET Evidence
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.453125

[PMID 23104177OA-icon.png] Fine-mapping of the 6q25 locus identifies a novel SNP associated with breast cancer risk in African American women

[PMID 23272245OA-icon.png] 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 22269215OA-icon.png] Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women

[PMID 23486537OA-icon.png] 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 23785413OA-icon.png] 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 23544013OA-icon.png]
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 24289300OA-icon.png] Effects of lifestyle and single nucleotide polymorphisms on breast cancer risk: a case--control study in Japanese women

GWAS snp
PMID [PMID 23535733OA-icon.png]
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 23354978OA-icon.png] Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.

[PMID 23577780OA-icon.png] Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.

[PMID 25116933OA-icon.png] Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population

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
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.