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Variant (rsID / SNP)

rs13447331

MC4R

rs13447331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC4R. Location: chromosome 18, position 58,039,203. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MC4RConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:58039203
Cytoband
18q21.32
HGVS
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
Allele change
Missense_S127L

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.