Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

ESR1

estrogen receptor 1

Chromosome
6
Cytoband
6q25.1-q25.2
Variants (rsID)
146

ESR1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q25.1-q25.2). Its official name is “estrogen receptor 1”. The reference table lists 146 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs2234693Risk factorsingle nucleotide variantMyocardial infarction, susceptibility to
  • rs1801132Not classifiedsynonymous_variantMigraine with or Without Aura 1|Migraine with Aura|Gallbladder Disease 1|Breast Cancer|Gallbladder Cancer|Migraine Without Aura|Hypercholesterolemia, Familial, 1|Alzheimer Disease|Mammographic Density|Hypercholesterolemia, Familial, 3|Bile Duct Cancer|Biliary Tract Cancer|Prostate Cancer|Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome|Personality Disorder|Borderline Personality Disorder|Leukemia, Acute Myeloid|Schizophrenia
  • rs2077647Not classifiedsynonymous_variantHepatitis B|Hypospadias|Mammographic Density|Breast Cancer|Dental Fluorosis|Prostate Cancer|Down Syndrome|Osteoporosis|Infantile Liver Failure Syndrome 1|Leukemia, Acute Myeloid|Cryptorchidism, Unilateral or Bilateral|Bone Mineral Density Quantitative Trait Locus 15|Bone Mineral Density Quantitative Trait Locus 8|Liver Disease|Postpartum Depression|Osteoarthritis|Mood Disorder|Liver Cirrhosis

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.