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Rs13387042

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome2
Position217041109
is asnp
is mentioned by
dbSNPrs13387042
ebirs13387042
Exacrs13387042
PheGenIrs13387042
hapmaprs13387042
1000 genomesrs13387042
hgdprs13387042
ensemblrs13387042
gopubmedrs13387042
geneviewrs13387042
scholarrs13387042
googlers13387042
pharmgkbrs13387042
gwascentralrs13387042
openSNPrs13387042
23andMers13387042
23andMe allrs13387042
SNP Nexus

SNPshotrs13387042
SNPdbers13387042
MSV3drs13387042
GWAS Ctlgrs13387042
GMAF0.4481
Max Magnitude1.25
? (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 19567422OA-icon.png]

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 19330030OA-icon.png]
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
OMIM114480
DescBREAST CANCER
Variant
Relatedalso
[PMID 19656774OA-icon.png] Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers



[PMID 19789366OA-icon.png] Evaluation of 11 breast cancer susceptibility loci in African-American women

GWAS snp
PMID [PMID 20453838OA-icon.png]
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]
OMIM600185
DescBRCA2 GENE; BRCA2
Variant
Relatedalso



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 21475998OA-icon.png] Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States


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


[PMID 22087758OA-icon.png] 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 18612136OA-icon.png] Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.


[PMID 18772892OA-icon.png] Can genes for mammographic density inform cancer aetiology?


[PMID 18785201OA-icon.png] Novel breast cancer risk alleles and endometrial cancer risk.


[PMID 18973230OA-icon.png] Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations.


[PMID 19088016OA-icon.png] Genetic susceptibility loci for breast cancer by estrogen receptor status.


[PMID 19232126OA-icon.png] Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort.


[PMID 19843326OA-icon.png] Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.


[PMID 19931039OA-icon.png] Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.


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


[PMID 20146796OA-icon.png] Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.


[PMID 20237344OA-icon.png] Performance of common genetic variants in breast-cancer risk models.


[PMID 20605201OA-icon.png] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.


[PMID 21596841OA-icon.png] Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.


[PMID 22045194OA-icon.png] Combined effect of low-penetrant SNPs on breast cancer risk.


[PMID 22532573OA-icon.png] The role of genetic breast cancer susceptibility variants as prognostic factors.


GET Evidence
rs13387042
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.398438
summary



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

GWAS snp
PMID [PMID 23535729OA-icon.png]
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 22910930OA-icon.png] Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.


[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 23563089OA-icon.png] Genetic ancestry modifies the association between genetic risk variants and breast cancer risk among Hispanic and non-Hispanic white women.


[PMID 23577780OA-icon.png] 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