rs523736

This is a intron variant variant in the ESR1 gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry
AssociationN=9,670Frank Qian et al.(2016)· Human Genetics

This case-control study examined 822 genetic variants in primary miRNA sequences and 10,468 variants in 38 miRNA biogenesis pathway genes in relation to breast cancer risk among women of African ancestry. The study included 1,657 cases and 2,029 controls from the ROOT consortium with replication in 3,153 cases and 2,831 controls from the AABC consortium. Key findings identified SNPs associated with overall breast cancer risk and estrogen receptor (ER)-specific risk, including rs73991220 in mir-4725 (ER-negative; OR=1.27, p=0.002), rs146287903 in PAPD4 (ER-negative; OR=0.49, p=3.27×10⁻⁴), and rs72631820 in miR-339-3p (ER-positive; OR=1.36, p=0.004).

Traits studied:Breast cancerEstrogen receptor-negative breast cancerEstrogen receptor-positive breast cancer
PubMedDOIMetascience Observatory

About ESR1

This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]

View all ESR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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