rs183830453

This is a intron variant variant in the CSTPP1 gene.

GWAS Catalog Trait Associations (1)

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

prothrombin amount

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.51
p 8.0e-15
N 10,708
Large GWAS
European

About CSTPP1

Enables protein-macromolecule adaptor activity. Involved in regulation of protein complex stability. Is active in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]

View all CSTPP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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