Variant (rsID / SNP)

rs52820871

rs52820871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC4R. Location: chromosome 18, position 58,038,832. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MC4RBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:58038832
Cytoband: 18q21.32
HGVS: NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)
Allele change: Missense_I251L

Associated conditions / phenotypes

Obesity|Monogenic diabetes

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.