rs140836503

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GWAS Catalog Trait Associations (2)

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

serpin A12 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.16
p 1.0e-12
N 47,745
Large GWAS
European

serpin A9 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.17
p 5.0e-12
N 47,745
Large GWAS
European
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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
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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