rs6589566

This variant is located in the ZPR1 gene.

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GWAS Catalog Trait Associations (3)

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

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele A
OR 0.22
p 1.0e-66
N 107,230
Large GWAS
East Asian

triglyceride measurement

Li D et al. “Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.” Genes & Genomics 42(4):393-403 (2020)
Allele C
OR 0.11
p 8.0e-38
N 6,840
Large GWAS
East Asian
Coram MA et al. “Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.” American Journal of Human Genetics 92(6):904-16 (2013)
Allele C
OR 0.21
p 5.0e-14
N 10,936
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Wallace C et al. “Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.” American Journal of Human Genetics 82(1):139-49 (2008)
Allele G
OR —
p 3.0e-11
N 1,955
Large GWAS
European

About ZPR1

The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

View all ZPR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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