Variant (rsID / SNP)

rs121917815

rs121917815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADIPOQ. Location: chromosome 3, position 186,572,092. Clinical significance in the table: Pathogenic.

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Reference-table entries

ADIPOQPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:186572092
Cytoband: 3q27.3
HGVS: NM_004797.4(ADIPOQ):c.334C>T (p.Arg112Cys)
Allele change: Missense_R112C

Associated conditions / phenotypes

Hypoadiponectinemia

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.