Variant (rsID / SNP)

rs13447324

rs13447324 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC4R. Location: chromosome 18, position 58,039,478. Clinical significance in the table: Pathogenic.

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Reference-table entries

MC4RPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:58039478
Cytoband: 18q21.32
HGVS: NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)
Allele change: Nonsense_Y35X

Associated conditions / phenotypes

Obesity|Schizophrenia

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.