rs13387042
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.25 | 1.24x increased risk for breast cancer |
| (A;G) | 1.1 | 1.12x increased risk for breast cancer |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 217041109 |
| Gene | LOC101928278, LOC105373874 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13387042 |
| dbSNP (classic) | rs13387042 |
| ClinGen | rs13387042 |
| ebi | rs13387042 |
| HLI | rs13387042 |
| Exac | rs13387042 |
| Gnomad | rs13387042 |
| Varsome | rs13387042 |
| LitVar | rs13387042 |
| Map | rs13387042 |
| PheGenI | rs13387042 |
| Biobank | rs13387042 |
| 1000 genomes | rs13387042 |
| hgdp | rs13387042 |
| ensembl | rs13387042 |
| geneview | rs13387042 |
| scholar | rs13387042 |
| rs13387042 | |
| pharmgkb | rs13387042 |
| gwascentral | rs13387042 |
| openSNP | rs13387042 |
| 23andMe | rs13387042 |
| SNPshot | rs13387042 |
| SNPdbe | rs13387042 |
| MSV3d | rs13387042 |
| GWAS Ctlg | rs13387042 |
| GMAF | 0.4481 |
| Max Magnitude | 1.25 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17529974] rs13387042(A;A) has an estimated 1.44-fold greater risk of breast cancer than the GG genotype.
This initial association was later tested among patients in the Breast Cancer Association Consortium, including 31,510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ (DCIS), and 35,969 controls. In Caucasian women of European origin, each A allele is associated with 1.12 higher odds (CI: 1.09-1.15). This association held regardless of ER or PR status. [PMID 19567422
]
| GWAS | |
|---|---|
| SNP | rs13387042 |
| PubMedID | [PMID 17529974] |
| Condition | Breast cancer |
| Gene | Intergenic |
| Risk Allele | A |
| pValue | 1.00E-013 |
| OR | 1.2 |
| 95% CI | 1.14-1.26 |
| GWAS snp | |
|---|---|
| PMID | [PMID 19330030]
|
| Trait | Breast cancer |
| Title | A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1) |
| Risk Allele | A |
| P-val | 2E-8 |
| Odds Ratio | |
[PMID 19656774] Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
[PMID 19789366] Evaluation of 11 breast cancer susceptibility loci in African-American women
| GWAS snp | |
|---|---|
| PMID | [PMID 20453838]
|
| Trait | Breast cancer |
| Title | Genome-wide association study identifies five new breast cancer susceptibility loci |
| Risk Allele | A |
| P-val | 2E-10 |
| Odds Ratio | 1.21 [1.14-1.29] |
[PMID 20664043] Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci
| GWAS snp | |
|---|---|
| PMID | [PMID 20872241] |
| Trait | |
| Title | A combined analysis of genome-wide association studies in breast cancer |
| Risk Allele | |
| P-val | 0.000009 |
| Odds Ratio | 1.18 [1.10-1.27] |
| GWAS snp | |
|---|---|
| PMID | [PMID 21263130] |
| Trait | |
| Title | Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study |
| Risk Allele | A |
| P-val | 2E-10 |
| Odds Ratio | 1.1600 [1.11-1.22] |
[PMID 21445572] Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
[PMID 21475998] Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States
[PMID 21791674] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
[PMID 22087758] Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer and Radiation Epidemiology (WECARE) study
[PMID 22287734] Evaluation of Breast Cancer Susceptibility Loci on 2q35, 3p24, 17q23 and FGFR2 Genes in Taiwanese Women with Breast Cancer
[PMID 18612136] Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.
[PMID 18772892] Can genes for mammographic density inform cancer aetiology?
[PMID 18785201] Novel breast cancer risk alleles and endometrial cancer risk.
[PMID 18973230] Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations.
[PMID 19088016] Genetic susceptibility loci for breast cancer by estrogen receptor status.
[PMID 19232126] Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort.
[PMID 19843326] Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
[PMID 19931039] Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.
[PMID 20085711] Leveraging genetic variability across populations for the identification of causal variants.
[PMID 20146796] Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.
[PMID 20237344] Performance of common genetic variants in breast-cancer risk models.
[PMID 20605201] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
[PMID 21596841] Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
[PMID 22045194] Combined effect of low-penetrant SNPs on breast cancer risk.
[PMID 22532573] The role of genetic breast cancer susceptibility variants as prognostic factors.
[PMID 22269215] Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women
| GWAS snp | |
|---|---|
| PMID | [PMID 23535729]
|
| Trait | Breast cancer |
| Title | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. |
| Risk Allele | A |
| P-val | 2E-57 |
| Odds Ratio | 1.14 [1.11-1.16] |
[PMID 22910930] Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.
[PMID 23354978] Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
[PMID 23563089] Genetic ancestry modifies the association between genetic risk variants and breast cancer risk among Hispanic and non-Hispanic white women.
[PMID 23577780] Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.
[PMID 24532140] Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population
[PMID 26364163] Interaction between common breast cancer susceptibility variants, genetic ancestry, and non-genetic risk factors in Hispanic women
[PMID 28757652] Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study.
[PMID 31605532] Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium.
