rs2232326

This variant is located in the G6PC2 gene.

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GWAS Catalog Trait Associations (3)

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

blood glucose amount

Chung RH et al. “Multi-omics analysis identifies CpGs near G6PC2 mediating the effects of genetic variants on fasting glucose.” Diabetologia 64(7):1613-1625 (2021)
Allele C
OR 0.46
p 4.0e-77
N 18,122
Large GWAS
East Asian
Spracklen CN et al. “Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.” Plos Genetics 14(4):e1007275 (2018)
Allele C
OR 0.25
p 2.0e-9
N 5,786
Large GWAS
East Asian

glucose measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.28
p 2.0e-20
N 325,386
Major Consortium StudyLarge GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.24
p 4.0e-19
N 394,642
Large GWAS
European

glucose tolerance test

Huang S et al. “The Born in Guangzhou Cohort Study enables generational genetic discoveries.” Nature 626(7999):565-573 (2024)
Allele C
OR 0.62
p 1.0e-11
N 1,684
Large GWAS
East Asian
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ClinVar annotation

Benign
1 submitter

G6PC2-related disorder

View on ClinVar →

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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