rs76785757
This is a upstream gene variant variant in the PINX1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement, high density lipoprotein cholesterol measurement
cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement
triglyceride measurement, low density lipoprotein cholesterol measurement
About PINX1
Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2025]
View all PINX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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