rs2075290

This variant is located in the ZPR1 gene.

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GWAS Catalog Trait Associations (32)

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 C
OR 0.19
p 1.0e-55
N 107,230
Large GWAS
East Asian
Kraja AT et al. “A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.” Diabetes 60(4):1329-39 (2011)
Allele C
OR 0.26
p 2.0e-9
N 22,161
Major Consortium StudyLarge GWAS
European

triglyceride measurement, metabolic syndrome

Kraja AT et al. “A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.” Diabetes 60(4):1329-39 (2011)
Allele C
OR 0.41
p 1.0e-16
N 22,161
Major Consortium StudyLarge GWAS
European

triglyceride measurement, high density lipoprotein cholesterol measurement

Kraja AT et al. “A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.” Diabetes 60(4):1329-39 (2011)
Allele C
OR 0.39
p 2.0e-14
N 22,161
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Genetic susceptibility of postmenopausal osteoporosis on sulfide quinone reductase-like gene
AssociationN=3,033Cai X. et al.(2018)· Osteoporosis International

This candidate gene association study of 1006 postmenopausal osteoporosis cases and 2027 controls from Han Chinese women investigated the SQRDL gene. The missense SNP rs1044032 (OR=0.80, P=6.42×10^-5) was significantly associated with postmenopausal osteoporosis, with the C allele conferring a 20% protective effect. Two additional SNPs (rs2028589 and rs12913151) were significantly associated with bone mineral density.

Traits studied:Bone mineral densityPostmenopausal osteoporosis
PubMedDOIMetascience Observatory

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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