rs780095
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.
low density lipoprotein cholesterol measurement
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.05
p 4.0e-308
N 361,194
Large GWAS
European
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
level of apolipoprotein C-III in blood serum
Cheng S et al. “The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.” Cell Discovery 9(1):75 (2023)
Allele G
OR 0.11
p 2.0e-13
N 10,241
Large GWAS
East Asian
blood glucose amount
Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)
Allele G
OR 0.07
p 8.0e-9
N 29,900
Major Consortium StudyLarge GWAS
European
level of apolipoprotein C-II in blood serum
Cheng S et al. “The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.” Cell Discovery 9(1):75 (2023)
Allele G
OR 0.08
p 1.0e-8
N 10,241
Large GWAS
East Asian
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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