Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

MC4R

melanocortin 4 receptor

Chromosome
18
Cytoband
18q21.32
Variants (rsID)
16

MC4R is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q21.32). Its official name is “melanocortin 4 receptor”. The reference table lists 16 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

12 reference-table entries with clinical significance.

  • rs2229616Benignsingle nucleotide variantObesity|Monogenic diabetes|OBESITY, RESISTANCE TO|MELANOCORTIN 4 RECEPTOR POLYMORPHISM|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
  • rs34114122Benignsingle nucleotide variantObesity
  • rs52820871Benignsingle nucleotide variantObesity|Monogenic diabetes
  • rs121913561Conflicting interpretationssingle nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|Obesity
  • rs13447325Conflicting interpretationssingle nucleotide variantObesity|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
  • rs13447331Conflicting interpretationssingle nucleotide variantObesity|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
  • rs79783591Conflicting interpretationssingle nucleotide variantObesity|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
  • rs121913564Likely pathogenicsingle nucleotide variantBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|Obesity
  • rs193922685Likely pathogenicsingle nucleotide variantObesity
  • rs13447324Pathogenicsingle nucleotide variantObesity|Schizophrenia
  • rs52804924Pathogenicsingle nucleotide variantObesity|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
  • rs193922686Uncertain significancesingle nucleotide variantObesity

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.