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rs2046210

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position151627231
is asnp
is mentioned by
dbSNPrs2046210
ebirs2046210
HLIrs2046210
Exacrs2046210
Varsomers2046210
Maprs2046210
PheGenIrs2046210
hapmaprs2046210
1000 genomesrs2046210
hgdprs2046210
ensemblrs2046210
gopubmedrs2046210
geneviewrs2046210
scholarrs2046210
googlers2046210
pharmgkbrs2046210
gwascentralrs2046210
openSNPrs2046210
23andMers2046210
23andMe allrs2046210
SNP Nexus

SNPshotrs2046210
SNPdbers2046210
MSV3drs2046210
GWAS Ctlgrs2046210
GMAF0.3825
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]

OMIM114480
DescBREAST CANCER
Variant
Relatedalso
[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
rs2046210
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.453125
summary



[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


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.