rs16926246
This is a regulatory region variant variant in the HK1 gene.
▶GWAS Catalog Trait Associations (23)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (23)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
HbA1c 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 T
OR 0.28
p —
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry
Soranzo N et al. “Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.” Diabetes 59(12):3229-39 (2010)
Allele T
OR 0.09
p 3.0e-54
N 46,368
Large GWAS
European
Appel EVR et al. “Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population.” European Journal of Human Genetics : Ejhg 26(6):868-875 (2018)
Allele T
OR 0.20
p 2.0e-20
N 4,049
Large GWAS
European
hematocrit
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.12
p —
N 928,679
Large GWAS
multi-ancestry
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele T
OR 0.33
p 1.0e-13
N 24,167
Major Consortium StudyLarge GWAS
European
hemoglobin measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.12
p —
N 928,679
Large GWAS
multi-ancestry
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR 0.12
p 1.0e-273
N 684,122
Large GWAS
European
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele T
OR 0.12
p 4.0e-106
N 46,904
Large GWAS
European
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele T
OR 0.11
p 2.0e-11
N 24,167
Major Consortium StudyLarge GWAS
European
bilirubin 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 T
OR 0.08
p 4.0e-104
N 354,368
Major Consortium StudyLarge GWAS
multi-ancestry
total cholesterol 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 T
OR 0.04
p 2.0e-23
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.03
p 1.0e-17
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 4.0e-13
N 480,086
Large GWAS
multi-ancestry
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry
low density lipoprotein cholesterol 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 T
OR 0.03
p 5.0e-20
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.03
p 2.0e-13
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 2.0e-10
N 416,487
Large GWAS
multi-ancestry
apolipoprotein B 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 T
OR 0.03
p 6.0e-17
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry
glycoprotein measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 2.0e-16
N 450,015
Large GWAS
multi-ancestry
cholesterol in small HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 7.0e-14
N 450,015
Large GWAS
multi-ancestry
concentration of small HDL particles measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 3.0e-13
N 450,015
Large GWAS
multi-ancestry
About HK1
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]
View all HK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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