rs780096
This variant is located in the GCKR gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
aspartate aminotransferase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.02
p 1.0e-28
N 493,058
Large GWAS
multi-ancestry
glomerular filtration rate
Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele G
OR 0.54
p 1.0e-15
N 58,406
Large GWAS
East Asian
triglycerides:total lipids ratio, blood VLDL cholesterol amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 9.0e-14
N 136,016
Large GWAS
multi-ancestry
histidine measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 8.0e-13
N 136,016
Large GWAS
multi-ancestry
bone tissue density
Medina-Gomez C et al. “Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.” American Journal of Human Genetics 102(1):88-102 (2018)
Allele C
OR —
β 0.031
p 5.0e-8
N 66,945
Meta-analysisLarge GWAS
multi-ancestry
About GCKR
This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]
View all GCKR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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