rs2232328

This variant is located in the G6PC2 gene.

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GWAS Catalog Trait Associations (2)

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

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ClinVar annotation

Benign
1 submitter

G6PC2-related disorder

View on ClinVar →
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Research that mentions this SNP (1)

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Fasting Glucose GWAS Candidate Region Analysis Across Ethnic Groups in the Multiethnic Study of Atherosclerosis (MESA)
AssociationN=5,550Rasmussen-Torvik LJ et al.(2012)· Genetic Epidemiology

This study examined genetic variants associated with fasting glucose from previously identified GWAS loci in four ethnic groups (Caucasian, African American, Hispanic, and Chinese descent) from the Multi-Ethnic Study of Atherosclerosis (MESA). The analysis focused on three gene regions (MTNR1B, GCK, and G6PC2) and found that rs10830963 in MTNR1B and rs4607517 in GCK demonstrated consistent magnitude of association with fasting glucose across ethnic groups (p = 1.29E-12 and p = 1.0E-7, respectively in meta-analysis), with effect sizes ranging from 1.22-1.66 mg/dl and -1.19 to -1.06 mg/dl respectively.

Traits studied:Fasting glucose
PubMedDOIMetascience Observatory

About G6PC2

This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

View all G6PC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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