Variant (rsID / SNP)

rs121913564

rs121913564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC4R. Location: chromosome 18, position 58,038,636. 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: 18:58038636
Cytoband: 18q21.32
HGVS: NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)
Allele change: Missense_I316S

Associated conditions / phenotypes

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|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.