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Variant (rsID / SNP)

rs52804924

MC4R

rs52804924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC4R. Location: chromosome 18, position 58,038,687. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MC4RPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
18:58038687
Cytoband
18q21.32
HGVS
NM_005912.3(MC4R):c.896C>A (p.Pro299His)
Allele change
Missense_P299H

Associated conditions / phenotypes

Obesity|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.