rs9383938
This is a intron variant variant in the ESR1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Genome-wide association study of endometrial cancer in E2C2AssociationN=23,420Immaculata De Vivo et al.(2014)· Human Genetics
Genome-wide association study of endometrial cancer (7,077 cases, 16,343 controls) identifying replication of the known HNF1B locus (rs4430796, OR=0.82, P=4.3×10⁻¹¹) and a novel genome-wide significant association at the RNASET2 locus (rs9459805, OR=1.19, P=1.11×10⁻⁵). A suggestive locus at PRLR (prolactin receptor) was also identified.
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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