Variant (rsID / SNP)
rs2229616
rs2229616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC4R. Location: chromosome 18, position 58,039,276. Clinical significance in the table: Benign.
Reference-table entries
MC4RBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:58039276
- Cytoband
- 18q21.32
- HGVS
- NM_005912.3(MC4R):c.307G>A (p.Val103Ile)
- Allele change
- Missense_V103I
Associated conditions / phenotypes
Obesity|Monogenic diabetes|OBESITY, RESISTANCE TO|MELANOCORTIN 4 RECEPTOR POLYMORPHISM|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
