rs4442975

This is a intergenic variant variant in the IGFBP-AS1 gene.

▶

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 T
OR 0.88
p 2.0e-97
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 T
OR 1.13
p 2.0e-28
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 T
OR 0.13
p 7.0e-32
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 T
OR 0.88
p 3.0e-22
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 T
OR 1.12
p 1.0e-95
N 139,274
Large GWAS
multi-ancestry

breast cancer

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.13
p 5.0e-18
N 394,626
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Integrative functional genomics identifies regulatory genetic variant modulating RAB31 expression and altering susceptibility to breast cancer
AssociationN=4,546Yi Zhang et al.(2018)· Molecular Carcinogenesis

A two-stage case-control study (2,164 cases, 2,382 controls) identified rs6506689 G>T as a breast cancer susceptibility variant with OR = 1.23 (95% CI = 1.07–1.40, P = 0.003) in combined analysis. Functional assays demonstrated that the T allele creates a FOXA1-binding site and upregulates RAB31 expression, implicating this regulatory variant in breast cancer development.

Traits studied:Breast cancerEstrogen receptor-negative breast cancerEstrogen receptor-positive breast cancerProgesterone receptor-negative breast cancerProgesterone receptor-positive 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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…