rs906220

This variant is located in the HK1 gene.

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GWAS Catalog Trait Associations (2)

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 G
OR 0.13
p 8.0e-166
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry
Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele G
OR 0.03
p 2.0e-21
N 144,060
Large GWAS
multi-ancestry

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 G
OR 0.03
p 1.0e-11
N 354,368
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
6 submitters1 publication

not specified; Retinitis pigmentosa 79; Hemolytic anemia due to hexokinase deficiency; not provided; Neurodevelopmental disorder with visual defects and brain anomalies; Charcot-Marie-Tooth disease type 4G; Retinal dystrophy

View on ClinVar →

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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