rs3817588
This variant is located in the GCKR 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.
triglyceride measurement
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele T
OR 0.03
p 5.0e-23
N 111,909
Large GWAS
multi-ancestry
low density lipoprotein cholesterol measurement, C-reactive protein measurement
Ligthart S et al. “Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.” Bmc Genomics 17:443 (2016)
Allele T
OR —
p 6.0e-12
N 160,454
Large GWAS
serum albumin amount
Choe EK et al. “Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.” Scientific Reports 12(1):1930 (2022)
Allele C
OR —
β 0.024
p 5.0e-11
N 9,664
Large GWAS
East Asian
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 C
OR 0.44
p 7.0e-10
N 58,406
Large GWAS
East Asian
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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