rs61757459

This is a stop gained variant in the SERPINA12 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serpin A12 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.45

p 6.0e-12

N 10,708

Large GWAS

European

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters1 publication

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

View on ClinVar →

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Research that mentions this SNP (1)

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Analysis of a rare functional truncating mutation rs61757459 in vaspin (SERPINA12) on circulating vaspin levels

FunctionalN=4,019Breitfeld J. et al.(2013)· Journal of Molecular Medicine

This study identifies rs61757459 in SERPINA12 (vaspin) as a rare functional truncating variant (p.R211X) that results in a premature stop codon and is associated with lower circulating vaspin levels, particularly in children. Structural modeling and protein expression experiments demonstrate that the truncated vaspin protein lacks core structural elements (reactive center loop, central β-sheet), leading to misfolding and instability with degradation before secretion in HEK293 cells.

Traits studied:Circulating vaspin levelsGlucose toleranceObesityType 2 diabetes

PubMed DOI Metascience Observatory

About SERPINA12

Enables molecular function inhibitor activity. Predicted to act upstream of or within negative regulation of gluconeogenesis; positive regulation of signal transduction; and regulation of lipid metabolic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]