Variant (rsID / SNP)

rs5030980

rs5030980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGRP. Location: chromosome 16, position 67,516,945. Clinical significance in the table: Pathogenic; association.

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Reference-table entries

AGRPPathogenic

Clinical significance (as recorded): Pathogenic; association
Variant type: single nucleotide variant
Chromosome / position: 16:67516945
Cytoband: 16q22.1
HGVS: NM_001138.2(AGRP):c.199G>A (p.Ala67Thr)
Allele change: Missense_A67T

Associated conditions / phenotypes

Leanness, inherited|Obesity, late-onset

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.