rs11249433

This variant is located in the EMBP1 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

breast carcinoma

Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele C
OR 0.91
p 8.0e-54
N 277,932
Large GWAS
multi-ancestry
Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele C
OR 1.07
p 8.0e-9
N 428,231
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.08
p 9.0e-13
N 337,280
Large GWAS
multi-ancestry
Sato G et al. “Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.” Nature Communications 14(1):3671 (2023)
Allele C
OR 1.10
p 2.0e-12
N 197,244
Large GWAS
European
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele C
OR 1.11
p 2.0e-52
N 139,274
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele C
OR 1.09
p 3.0e-27
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele C
OR 1.09
p 2.0e-26
N 22,627
Large GWAS
European
Thomas G et al. “A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).” Nature Genetics 41(5):579-84 (2009)
Allele C
OR 1.16
p 7.0e-10
N 2,287
Large GWAS
European

breast cancer

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele G
OR 0.08
p 2.0e-8
N 175,905
Large GWAS
European
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Research that mentions this SNP (3)

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Prognostic value of Notch receptors in postsurgical patients with hepatitis B virus‐related hepatocellular carcinoma
AssociationN=465Tingdong Yu et al.(2017)· Cancer Medicine

Candidate gene study of 465 HBV-related hepatocellular carcinoma (HCC) patients examined 19 SNPs in Notch pathway receptors (NOTCH1-4) using Sanger sequencing. Four SNPs significantly associated with overall survival: rs1043996 (NOTCH3), rs422951 (NOTCH4), rs520692 (NOTCH4), and rs3830041 (NOTCH4). Notch3 mRNA was significantly elevated in tumors (P<0.0001) and higher expression predicted poorer overall and recurrence-free survival.

Traits studied:Hepatocellular carcinoma (HBV-related)Overall survivalRecurrence-free survival
PubMedDOIMetascience Observatory
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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory
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Incidence of Breast Cancer and Its Subtypes in Relation to Individual and Multiple Low-Penetrance Genetic Susceptibility Loci
AssociationN=2,791Gillian K. Reeves et al.(2010)· JAMA

Population-based case-control study of 1,484 breast cancer cases and 1,307 controls examining 13 GWAS-identified SNPs for breast cancer susceptibility. Confirmed associations for 7 SNPs (rs13387042, rs4973768, rs10941679, rs2981582, rs3817198, rs3803662, rs6504950), with women in the highest quintile of a polygenic risk score having 2.2-fold increased breast cancer risk (95% CI: 1.67-2.88) compared to the lowest quintile. No significant interactions were detected between genetic loci and reproductive/menstrual risk factors.

Traits studied:Breast cancer
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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