Variant (rsID / SNP)

rs193922685

rs193922685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC4R. Location: chromosome 18, position 58,039,045. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MC4RLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:58039045
Cytoband: 18q21.32
HGVS: NM_005912.3(MC4R):c.538T>C (p.Ser180Pro)
Allele change: Missense_S180P

Associated conditions / phenotypes

Obesity

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.