rs78625720
This is a upstream gene variant variant in the JPT1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
orotidine measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 1.84
p —
N 14,296
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele A
OR 1.70
p —
N 8,017
Large GWAS
European
protein 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 1.72
p —
N 10,708
Large GWAS
European
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 1.41
p 4.0e-160
N 5,359
Large GWAS
European
5'(3')-deoxyribonucleotidase, cytosolic type measurement
Allele A
OR —
β 0.750
p 1.0e-25
N 3,301
Large GWAS
European
About JPT1
Located in several cellular components, including intercellular bridge; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all JPT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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