rs1292011

This variant is located in the LOC105370003 gene.

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GWAS Catalog Trait Associations (3)

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 A
OR 1.09
p 1.0e-47
N 277,932
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.08
p 1.0e-13
N 337,280
Large GWAS
multi-ancestry
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 1.09
p 4.0e-39
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 A
OR 1.09
p 2.0e-21
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 A
OR 1.09
p 9.0e-22
N 22,627
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 0.09
p 2.0e-8
N 175,905
Large GWAS
European

gut microbiome measurement, breastfeeding duration

Stickley SA et al. “Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy.” The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)
Allele G
OR 0.79
p 5.0e-8
N 688
Small GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association between breast cancer genetic susceptibility variants and terminal duct lobular unit involution of the breast
AssociationN=872Clara Bodelon et al.(2017)· International Journal of Cancer

This pooled analysis of 872 women from two studies (Susan G. Komen Tissue Bank and BREAST Stamp Project) investigated the association between 62 established breast cancer susceptibility SNPs and terminal duct lobular unit (TDLU) involution, a breast cancer risk factor. Six SNPs (9.7%) showed nominal associations with at least one TDLU measure: rs616488 (PEX14), rs11242675 (FOXQ1), and rs6001930 (MKL1) with higher TDLU count (P=0.047, 0.045, 0.031); rs1353747 (PDE4D) and rs6472903 (8q21.11) with higher acini count per TDLU (P=0.007, 0.027); and rs1353747 (PDE4D) and rs204247 (RANBP9) with higher epithelial content (P=0.024, 0.017). Overall, breast cancer susceptibility SNPs showed limited enrichment for associations with TDLU involution.

Traits studied:Breast cancerMammographic densityTerminal duct lobular unit (TDLU) involution
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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